Wyszukaj projekt badawczy
297 Wyniki
Zakończone projekty badawcze = 
Ufundowane przez członka IRDiRC = 
Członek Europejskiej Sieci Referencyjnej (ERN) = 
Projekt badawczy
KANADA
Québec
SHERBROOKE
Application clinique du séquençage de l'exome pour le diagnostic moléculaire des syndromes polymalformatifs
CIUSSS de l'Estrie - CHUS Fleurimont
Service de génétique médicale
NIEMCY
Sachsen-Anhalt
MAGDEBURG
EUROlinkCAT: Europaweites Netzwerk zum Outcome von angeborenen Fehlbildungen (partner DE)
Universitätsklinikum Magdeburg A.ö.R
MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
ZJEDNOCZONE KRÓLESTWO
Tyne & Wear
NEWCASTLE UPON TYNE
Human Developmental Biology Resource (HDBR): an embryonic and fetal tissue bank for functional genetics and cell-based research
Newcastle University
Institute of Genetic Medicine
AUSTRIA
NIEDERÖSTERREICH
KLOSTERNEUBURG
IMPACT: Identification of converging Molecular Pathways Across Chromatinopathies as Targets for Therapy - AT
IST Austria
Institute of Science and Technology Austria
AUSTRIA
WIEN
ADDRESS: NOT PROVIDED - AT
Neuro-MIG: European Network on Brain Malformations - AT
Institution: Information not provided - AT
AUSTRIA
WIEN
WIEN
RIBOEUROPE: The European Ribosomopathy Consortium - AT
AKH BT 25.3
Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases
AUSTRIA
WIEN
WIEN
Pharmakologischer Rescue von Kreatintransporter-1 Mutanten
Medizinische Universität Wien
Zentrum für Physiologie und Pharmakologie
BELGIA
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
EUNEFRON: rare disorders of the distal convoluted tubule (WP4)
Cliniques universitaires Saint-Luc - UCLouvain
Laboratory of Nephrology
BELGIA
HAINAUT
GOSSELIES
RIBOEUROPE: Le Consortium Européen de la Ribosomopathie - BE
Biopark campus
The 'RNA Metabolism' Lab - Université Libre de Bruxelles (ULB)
KANADA
Alberta
CALGARY
Investigating the Effects of Mutations in the Spliceosomal Gene SNRPB in Cerebro-Costo-Mandibular Syndrome
Alberta Children's Hospital
Calgary Molecular Diagnostic Laboratory
KANADA
Alberta
CALGARY
Investigating the Effects of Mutations in the Spliceosomal Gene SNRPB in Cerebro-Costo-Mandibular Syndrome
Alberta Children's Hospital
Department of Medical Genetics
KANADA
Alberta
EDMONTON
Autonomic nervous system function and metabolic profiling in children with PWS
University of Alberta
Department of Pediatrics, Division of Endocrinology and Metabolism
KANADA
Alberta
EDMONTON
Evidence-based approach to dietary management of Prader Willi Syndrome
University of Alberta
Department of Pediatrics, Division of Endocrinology and Metabolism
KANADA
Colombie-Britannique
VANCOUVER
Étude de la structure et de la fonction du régulateur de l'autophagie humaine EPG5
University of British Columbia
Department of Biochemistry & Molecular Biology
KANADA
Colombie-Britannique
VANCOUVER
Mutational analysis of EZH2 in patients with Weaver and Weaver-like syndromes
University of British Columbia
CFRI - Child and Family Research Institute
KANADA
Ontario
TORONTO
Pathobiology and robosomal insufficiency in Shwachman-Diamond syndrome
Hospital for Sick Children, Research Institute
KANADA
Ontario
TORONTO
iPS cells to model vascular disease in patients with Williams Beuren syndrome
Hospital for Sick Children, Research Institute
KANADA
Ontario
TORONTO
Deciphering the Role of UBR1 E3 Ubiquitin Ligase using a C. elegans Model
Mount Sinai Hospital
Lunenfeld-Tanenbaum Research Institute
KANADA
Ontario
TORONTO
Functional Dissection of Small RNA Pathways that Impact Chromatin
University of Toronto
Department of Molecular Genetics
KANADA
Québec
MONTRÉAL
Developing retinal gene augmentation therapy for Zellweger Spectrum Disorder
Glen / McGill Univeristy Health Centre - Centre Universitaire de santé McGill
Department of pathology
KANADA
Québec
MONTRÉAL
Mécanismes moléculaires de CdGAP, un régulateur négatif des petites GTPases oncogéniques Rac1 et Cdc42
McGill University - Dentistry Building
Département d'Anatomie et Biologie Cellulaire / Department of Anatomy and Cell Biology
KANADA
Québec
MONTRÉAL
Les bases génétiques des malformations atypiques dans le syndrome de gènes contigus : le cas de 22q11.2
Montreal Children's Hospital Research Institute - McGill University
Department of Pediatrics / Département de pédiatrie
KANADA
Québec
MONTRÉAL
Développement et test préclinique dans des modèles cellulaires humains et des souris transgéniques d'un nouveau traitement pour le syndrome de Schinzel-Giedion
The Douglas Research Centre
Human Neuroscience
FINLANDIA
Finland
HELSINKI
FinnDisMice - Mouse Models for Finnish Disease Heritage
University of Helsinki
FRANCJA
AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
Disséquer les mécanismes par lesquels différents types de cellules musculaires apparaissent dans le mésoderme cardiopharyngé postérieur.
Institution: Information not provided - FR
FRANCJA
AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
Food practices socialization of children with Prader-Willi syndrom
Institution: Information not provided - FR
FRANCJA
AUVERGNE-RHONE-ALPES
BRON
Rôle de l'épissage mineur dans le développement cérébral
CHU de Lyon HCL - GH Est-Hôpital Femme Mère Enfant
Equipe GENDEV - Génétique des anomalies du neurodéveloppement
FRANCJA
AUVERGNE-RHONE-ALPES
BRON
Etude génétique et moléculaire de patients atteints du syndrome de Wolcott-Rallison et d'autres diabètes néonataux
CHU de Lyon HCL - GH Est-Hôpital Femme Mère Enfant
Service d'endocrinologie et de diabétologie pédiatriques et maladies héréditaires du métabolisme
FRANCJA
AUVERGNE-RHONE-ALPES
PRAGUE
Mechanisms underlying neural phenotypes of cholesterol synthesis disorders
Faculty of Medicine and University Hospital Motol
Department of Pediatrics
FRANCJA
BOURGOGNE-FRANCHE-COMTE
DIJON
Détection prénatale non invasive d'aneuploïdies sur plasma maternel par séquençage haut débit ciblé
CHU de Dijon - Plateau technique de Biologie
Laboratoire de génétique chromosomique et moléculaire
FRANCJA
GRAND-EST
ILLKIRCH-GRAFFENSTADEN
RAinRARE: Analyses intégrées de la signalisation de l'acide rétinoïque pour comprendre et traiter une forme rare de déficience motrice progressive - FR (Partenaire 1)
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Biologie du développement et cellules souches
FRANCJA
GRAND-EST
ILLKIRCH-GRAFFENSTADEN
PREDACTING: Predicting the clinical outcome of non-muscle actinopathies - FR
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Biologie du développement et cellules souches
FRANCJA
GRAND-EST
ILLKIRCH-GRAFFENSTADEN
Etude de la régulation de l'activité diacylglycerol kinase par FMRP et sa dérégulation dans la maladie du syndrome de l'X Fragile
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Médecine translationnelle et neurogénétique
FRANCJA
GRAND-EST
STRASBOURG
TC NER: Transcription stress Counteracted by Nutritional interventions of Exceptional importance for rare DNA Repair diseases - FR
CHU de Strasbourg - Hôpital de Hautepierre
Service de Neuropédiatrie
FRANCJA
GRAND-EST
STRASBOURG
Le syndrome de Bardet-Bield: identification de nouveaux gènes et caractérisation biologique d'un nouveau gène (BBS10)
Faculté de médecine de Strasbourg - Louis Pasteur
Laboratoire de génétique médicale - Unité Inserm U1112
FRANCJA
GRAND-EST
STRASBOURG
RAinRARE: Analyses intégrées de la signalisation de l'acide rétinoïque pour comprendre et traiter une forme rare de déficience motrice progressive - FR (Partenaire 2)
Faculté de médecine de Strasbourg - Louis Pasteur
iCube CSTB
FRANCJA
GRAND-EST
VANDOEUVRE LES NANCY CEDEX
PHYSPATH-KS: Understanding the pathophysiology of Keutel Syndrome: A path towards cure - FR
Institut des sciences de l'ingénierie et des systèmes
UMR7365 Ingénierie Moléculaire et Physiopathologie Articulaire (IMoPA)
FRANCJA
ILE-DE-FRANCE
PARIS
EUNEFRON: rare disorders of the distal convoluted tubule (WP4)
AP-HP. Centre - Université de Paris - HEGP Hôpital Européen Georges Pompidou
Service de génétique
FRANCJA
ILE-DE-FRANCE
PARIS
Microcephaly, Fanconi Anemia and Praxial Disorders (MicroFancII)
CHU Paris - Hôpital Robert Debré
UF de Génétique clinique
FRANCJA
ILE-DE-FRANCE
PARIS
METAFRAX: Étude de la plasticité synaptique dans le syndrome de l'X fragile
CNRS - Centre national de la recherche scientifique
Centre National de la Recherche Scientifique
FRANCJA
ILE-DE-FRANCE
PARIS
RIBOEUROPE: The European Ribosomopathy Consortium - FR
Faculté de Médecine Paris Diderot Paris 7 - site Bichat
Centre de Recherche sur l'Inflammation (UMR 1149 Inserm - Université Paris Diderot - ERL CNRS 8252)
FRANCJA
ILE-DE-FRANCE
PARIS
FANEDIT: Gene editing as a novel therapeutic strategy in Fanconi anemia - FR
GHU AP-HP Nord. Université de Paris - Hôpital Saint-Louis
Laboratoire d'hématologie
FRANCJA
ILE-DE-FRANCE
PARIS
Cellules souches hématopoïétiques dysfonctionnelles et hématopoïèse clonale dans l'anémie de Fanconi: qu'est-ce qui sous-tend un phénotype atténué?
GHU AP-HP Nord. Université de Paris - Hôpital Saint-Louis
Laboratoire d'hématologie
FRANCJA
ILE-DE-FRANCE
PARIS
Maladies hématologiques constitutionnelles: recherche clinique, thérapeutique; biologie moléculaire
GHU AP-HP Nord. Université de Paris - Hôpital Saint-Louis
Service d'hématologie pédiatrique
FRANCJA
ILE-DE-FRANCE
PARIS
dissection of molecular bases of myhre syndrome : identification of new genes in pre-screened patients
IMAGINE - Institut des Maladies Génétiques
Equipe "Bases moléculaires et physiopathologiques des chondrodysplasies"
FRANCJA
ILE-DE-FRANCE
PARIS
Défauts des mitochondries et des protéases dans les cellules du syndrome progéroïde de Cockayne et pendant des processus associés au vieillissement.
Institut Pasteur
Cellules souches et Développement - CNRS UMR3738
FRANCJA
ILE-DE-FRANCE
PARIS
FRANCJA
ILE-DE-FRANCE
PARIS
Etude génétique et moléculaire de patients atteints du syndrome de Wolcott-Rallison et d'autres diabètes néonataux
U.F.R. de Médecine Paris Diderot - Paris 7 - Site Villemin
INSERM UMR_S958 "Génétique des Diabètes"
FRANCJA
ILE-DE-FRANCE
PARIS
Modeling Rubinstein Taybi Syndrome Functionalization of a Rare Monogenic Disease and Therapeutic Potential of Stress Response Pathways in Neuropathies.
Université Paris Diderot
Unité Epigénétique et Destin Cellulaire CNRS UMR7216
FRANCJA
ILE-DE-FRANCE
PARIS
Modéliser le syndrome de Rubinstein-Taybi : Fonctionnalisation d'une maladie monogénique rare et potentiel thérapeutique des voies de réponses au stress dans les neuropathies
Université Paris Diderot
Unité Epigénétique et Destin Cellulaire CNRS UMR7216
FRANCJA
ILE-DE-FRANCE
VILLEJUIF
Aux origines de l'anémie et de la thrombocytopénie dans l'anémie de Fanconi.
CLCC Institut Gustave Roussy
4Rs : Replication, Repair, Recombination and ROS
FRANCJA
NOUVELLE AQUITAINE
BORDEAUX
Recherche d'un gène responsable du syndrome de Goldenhar
CHU de Bordeaux-GH Pellegrin
Laboratoire Maladies Rares : Génétique et Métabolisme (MRGM)
FRANCJA
NOUVELLE AQUITAINE
BORDEAUX
Further delineation of molecular bases of Oculo-Auriculo-Vertebral Spectrum
CHU de Bordeaux-GH Pellegrin
Laboratoire Maladies Rares : Génétique et Métabolisme (MRGM)
FRANCJA
NOUVELLE AQUITAINE
BORDEAUX
Séquençage du génome entier dans le spectre complexe Oculo-Auriculo-vertébral : application sur le séquençage de l'exome entier des cas familiaux négatifs versus analyse directe
CHU de Bordeaux-GH Pellegrin
Laboratoire Maladies Rares : Génétique et Métabolisme (MRGM)
FRANCJA
OCCITANIE
MONTPELLIER
Exploiter l'édition de l'épigénome dans le syndrome de Kabuki: une nouvelle voie vers la thérapie génique pour les troubles génétiques rares
CHU de Montpellier - Hôpital Arnaud de Villeneuve
Equipe Maladies Génétiques de l'Enfant et de l'Adulte
FRANCJA
OCCITANIE
MONTPELLIER
ZEPIKAB: Zebrafish: a model to test the therapeutic potential of epidrugs on complex Kabuki phenotypes - FR
CHU de Montpellier - Hôpital Saint-Eloi
INSERM U1183 "Cellules souches, plasticité cellulaire, médecine régénératrice et immunothérapies"
FRANCJA
OCCITANIE
MONTPELLIER
IMPACT: Identification des voies moléculaires convergentes à travers les chromatinopathies en tant que cibles thérapeutiques - FR
Institut de Génétique Humaine (IGH)
Chromatin and cell biology
FRANCJA
PAYS DE LA LOIRE
NANTES
Corrélation génotype-phénotype et étude de la pénétrance du syndrome FXTAS: étude des porteurs de la prémutation FMR1
CHU de Nantes - Hôpital Nord Guillaume et René Laënnec
Centre d'investigation clinique neuro-psycho-pharmacologie
FRANCJA
PAYS DE LA LOIRE
NANTES
Recherche translationnelle sur les maladies neurodéveloppementales causés par une déficience du système ubiquitine-protéasome
Université de Nantes
L'unité de recherche de l'institut du thorax
FRANCJA
PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
HETER-OMICS: Interrogatoire Multi-OMICS des malformations corticales cérébrales - FR
Institut de neurobiologie de la méditerranée (INMED)
Bases moléculaires et physiopathologie des malformations du cortex cérébral
FRANCJA
PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
Proof-of-concept viral-mediated Necdin gene therapy to cure respiratory alterations in Prader-Willi Syndrome
Parc scientifique et technologiques de Luminy
INMED -Institut de Neurobiologie de la Méditerranée - UMR1249
FRANCJA
PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
Necdin gene therapy to restore normal breathing in a mouse model of Prader-Willi syndrome
Parc scientifique et technologiques de Luminy
INMED -Institut de Neurobiologie de la Méditerranée - UMR1249
FRANCJA
PROVENCE-ALPES-COTE D'AZUR
NICE
Étude de la signalisation SYK dans les maladies inflammatoires chroniques
Centre Méditerranéen de Médecine Moléculaire
FRANCJA
PROVENCE-ALPES-COTE D'AZUR
VALBONNE
Physiopathologie du retard mental: syndrome de l' X fragile et retard mental associé au site FRAXE en Xq28
IPMC - Institut de Pharmacologie Moléculaire et Cellulaire
Institut de Pharmacologie Moléculaire et Cellulaire - IPMC UMR7275
FRANCJA
PROVENCE-ALPES-COTE D'AZUR
VALBONNE
Nouvelles cibles thérapeutiques dans le Syndrome de l'X Fragile
IPMC - Institut de Pharmacologie Moléculaire et Cellulaire
Institut de Pharmacologie Moléculaire et Cellulaire - IPMC UMR7275
FRANCJA
PROVENCE-ALPES-COTE D'AZUR
VALBONNE
Explorer des stratégies innovantes pour restaurer la fonction synaptique et les comportements sociocognitifs dans un modèle murin exprimant une mutation récurrente du syndrome du X fragile chez l'humain
IPMC - Institut de Pharmacologie Moléculaire et Cellulaire
Equipe "Implication physiologique et physiopathologique de la sumoylation neuronale"
NIEMCY
Baden-Württemberg
FREIBURG
Eine prospektive, internationale, multizentrische Verlaufbeobachtungsstudie bei Patienten mit kombiniertem T-Zell Immundefekt (profound combined immunodeficiency : P-CID)
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz
NIEMCY
Baden-Württemberg
FREIBURG
RIBOEUROPE: Das Europäische Ribosomopathie-Konsortium
Zentrum für Kinder- und Jugendmedizin Freiburg
Klinik für Pädiatrische Hämatologie und Onkologie
NIEMCY
Baden-Württemberg
HEIDELBERG
ADDRess: Translationale Forschung für Personen mit DNA Reparaturdefekten
Deutsches Krebsforschungszentrum
KITZ - Hopp-Kindertumorzentrum Heidelberg
NIEMCY
Baden-Württemberg
HEIDELBERG
ADDRess: Translationale Forschung für Personen mit DNA Reparaturdefekten
Universitäts-Frauenklinik Heidelberg
Frauenheilkunde und Geburtshilfe
NIEMCY
Baden-Württemberg
TÜBINGEN
ESPED-Studie: Omphalozelen und assoziierte Fehlbildungen bei Neu- und Frühgeborenen
Universitätsklinik für Kinder- und Jugendmedizin Tübingen
Abteilung für Neonatologie
NIEMCY
Bayern
NEUHERBERG
Aufklärung der molekularen und zellulären Signalwege im PURA-Syndrom
Helmholtz Zentrum München
Institut für Strukturbiologie - AG Niessing
NIEMCY
Bayern
WÜRZBURG
ADDRess: Translationale Forschung für Personen mit DNA Reparaturdefekten
Universität Würzburg - Biozentrum
Institut für Humangenetik
NIEMCY
Bayern
WÜRZBURG
Klinische Beobachtungsstudie: Kognitive Fähigkeiten, Entwicklung und Hörvermögen bei Patienten mit Münke-Syndrom
Universitätsklinikum Würzburg
Sektion für Pädiatrische Neurochirurgie
NIEMCY
Berlin
BERLIN
Aufklärung molekularer Mechanismen, die am jObes1 Lokus den juvenilen Fettansatz in der Berliner Fettmaus verursachen
Humboldt-Universität zu Berlin
Fachbereich Züchtungsbiologie und molekulare Genetik
NIEMCY
Hamburg
HAMBURG
Genetische und funktionelle Untersuchungen zum Microphthalmia with linear skin defects (MLS) - Syndrom
UKE - Universitätsklinikum Hamburg-Eppendorf
Institut für Humangenetik
NIEMCY
Hamburg
HAMBURG
Identifizierung neuer monogener Krankheitsgene mittels Next Generation Sequencing-Technologie
UKE - Universitätsklinikum Hamburg-Eppendorf
Institut für Humangenetik
NIEMCY
Hessen
LANGEN
Präklinische Gentherapie von Fanconi-Anämie mit transposon-basierten Ansätzen
Paul-Ehrlich-Institut
Abteilung Medizinische Biotechnologie
NIEMCY
Mecklenburg-Vorpommern
ROSTOCK
Biomarker der Hurler-Krankheit (BioHurler): Ein internationales, multizentrisches, epidemiologisches Protokoll
CENTOGENE GmbH
NIEMCY
Niedersachsen
GÖTTINGEN
Untersuchungen zur Pathogenese des Kabuki Syndroms, insbesondere im Hinblick auf eine mögliche gemeinsame Pathogenese zum CHARGE Syndrom
Institut für Humangenetik der Universität Göttingen
Institut für Humangenetik
NIEMCY
Niedersachsen
GÖTTINGEN
Ein Long-Read-Genomsequenzierungsansatz zur Identifizierung bislang unbekannter Gene für Erkrankungen mit beschleunigter Alterung
Institut für Humangenetik der Universität Göttingen
Institut für Humangenetik
NIEMCY
Niedersachsen
HANNOVER
ADDRess: Translationale Forschung für Personen mit DNA Reparaturdefekten
Medizinische Hochschule Hannover
Klinik für Pädiatrische Hämatologie und Onkologie
NIEMCY
Niedersachsen
HANNOVER
PREDACTING: Prädiktive Bewertung der klinischen Verlaufsformen von nicht-muskulären Aktinopathien
Medizinische Hochschule Hannover
Institut für Biophysikalische Chemie
NIEMCY
Nordrhein-Westfalen
AACHEN
TREAT-SGS: Entwicklung einer neuartigen Therapie von Schinzel-Giedion-Syndrom und vorklinische Erprobung in humanen Zellmodellen und transgenen Mäusen
Rheinisch-Westfälische Technische Hochschule Aachen
Joint Research Center for Computational Biomedicine
NIEMCY
Nordrhein-Westfalen
AACHEN
Identifizierung molekularer Ursachen des menschlichen Kleinwuchses bei Patienten mit Merkmalen des Silver-Russell-Syndroms
Universitätsklinikum Aachen
Institut für Humangenetik
NIEMCY
Nordrhein-Westfalen
BONN
Systematische Identifizierung und Charakterisierung von Krankheitsgenen für die VATER/VACTERL-Assoziation
Universitätsklinikum Bonn (AöR)
Institut für Humangenetik
NIEMCY
Nordrhein-Westfalen
DÜSSELDORF
2020-2019-HUM-ADULT: Beschreibung des klinischen Bildes von erwachsenen Menschen mit seltenen genetischen Syndromen
Heinrich-Heine-Universität Düsseldorf
Institut für Humangenetik
NIEMCY
Nordrhein-Westfalen
DÜSSELDORF
ADDRess: Translationale Forschung für Personen mit DNA Reparaturdefekten
Universitätsklinikum Düsseldorf
Institut für Pathologie
NIEMCY
Nordrhein-Westfalen
KÖLN
TC NER : Transkriptions-Stress kann durch Ernährungsumstellungen beeinflusst werden und ist von essentieller Bedeutung bei seltenen Krankheiten, mit defekten DNA-Reparaturmechanismen - partner DE
CECAD Research Center
Exzellenzcluster CECAD in der Universität zu Köln
NIEMCY
Rheinland-Pfalz
MAINZ
TIC-PEA: Telemedizinische interdisziplinäre Versorgung von Patienten mit Ösophagusatresie
Universitätsmedizin Mainz
Klinik und Poliklinik für Kinderchirurgie
NIEMCY
Saarland
HOMBURG
PHYSPATH-KS: Verständnis der Pathophysiologie des Keutel-Syndroms: Ein Weg zur Heilung
Universitätsklinikum des Saarlandes
Institut für Experimentelle Orthopädie und Arthroseforschung
NIEMCY
Sachsen
DRESDEN
PREDACTING: Prädiktive Bewertung der klinischen Verlaufsformen von nicht-muskulären Aktinopathien
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Institut für Klinische Genetik
WĘGRY
Közép-Magyarország
BUDAPEST
PREDACTING: Predicting the clinical outcome of non-muscle actinopathies - HU
Semmelweis University
Department of Biophysics and Radiation Biology
IRLANDIA
County Dublin
DUBLIN
Conformational triggers, Mechanisms and Pathways for Neurodegenerative Disease
Trinity College Dublin
Institute of Neuroscience
WŁOCHY
CAMPANIA
NAPOLI
Ricerca di mutazioni nel gene KDM5C mutato in pazienti affetti da autismo e disabilità intellettiva
Istituto di Genetica e Biofisica "Adriano Buzzati Traverso" - CNR
Human Molecular Neurogenetics Laboratoty
WŁOCHY
FRIULI VENEZIA GIULIA
TRIESTE
miRNA nella sindrome di Prader-Willi
Area Scienze Park - Campus di Basovizza
Centro Studi Fegato
WŁOCHY
LAZIO
FIUMICINO
La sindrome di Prader-Willi: aspetti genetici, neuroanatomo funzionali ed endocrino metabolici
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE PALIDORO
U.O. di Endocrinologia
WŁOCHY
LAZIO
ROMA
Studio della delezione di KDM6A, un istone demetilasi che interagisce con MLL2, in tre pazienti affetti da Sindrome di Kabuki
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
Servizio Clinico di Consulenza Genetica
WŁOCHY
LAZIO
ROMA
Studio di uno spettro limitato di mutazioni del gene soppressore SMAD4 nella Sindrome di Myhre
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
Servizio Clinico di Consulenza Genetica
WŁOCHY
LAZIO
ROMA
Studio dell' associazione tra Sindrome di DiGeorge e sequenza displasia caudale in un neonato nato da madre diabetica
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
Servizio Clinico di Consulenza Genetica
WŁOCHY
LAZIO
ROMA
Deficit di ubiquitina ligasi UBE3B nella Sindrome blefarofimosi- ritardo mentale
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
Servizio Clinico di Consulenza Genetica
WŁOCHY
LAZIO
ROMA
Studio della patogenesi dei fenomeni autoimmune nelle immunodeficienze primitive
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
U.O. di Immunoinfettivologia Pediatrica
WŁOCHY
LAZIO
ROMA
Caratterizzazione clinica e molecolare di sindromi genetiche con cardiopatie congenite
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
U.O.C. Laboratorio di Genetica Medica
WŁOCHY
LAZIO
ROMA
Studio della delezione di KDM6A, un istone demetilasi che interagisce con MLL2, in tre pazienti affetti da Sindrome di Kabuki
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
UOS Genetica Medica
WŁOCHY
LAZIO
ROMA
Studio di uno spettro limitato di mutazioni del gene soppressore SMAD4 nella Sindrome di Myhre
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
A.R. Genetica e Malattie Rare
WŁOCHY
LAZIO
ROMA
Pediatric ataxias and public health: epidemiological studies and disease registry, development of multi-level informatics platform for clinicians and family, and implementation of guidelines for diagnosis, management and care within the national health system
ISS - Istituto Superiore di Sanità
Centro Nazionale per la Prevenzione delle Malattie e la Promozione della Salute
WŁOCHY
LAZIO
ROMA
Characterization of adenosine receptors in a mouse model of fragile X syndrome (FXS)
ISS - Istituto Superiore di Sanità
Centro Nazionale per la Ricerca e la Valutazione preclinica e clinica dei Farmaci
WŁOCHY
LAZIO
ROMA
RegistRare: the new National Platform dedicated to Rare Diseases Registries
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
WŁOCHY
LAZIO
ROMA
Migliorare gli standard di qualità dei laboratori italiani che svolgono test genetici per le malattie rare
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
WŁOCHY
LAZIO
ROMA
La Drosophila come organismo modello per lo studio della Nijmegen Breakage Syndrome e delle malattie ad essa correlate
Sapienza Università di Roma
Dipartimento di Genetica e Biologia Molecolare
WŁOCHY
LIGURIA
GENOVA
Correzione della aberrante omeostasi dello ione Cloro e della trasmissione GABAergica nella Sindrome di Down per ottenere nuovi approcci terapeutici
Istituto Italiano di Tecnologia
Dipartimento di Neuroscience e Tecnologie del Cervello
WŁOCHY
LOMBARDIA
CUSANO MILANINO
Trasferimento delle nuove tecnologie nella diagnosi corrente di malattie genetiche rare a meccanismi eziopatogenetici multipli
Istituto Auxologico Italiano
Laboratorio di Biologia Molecolare
WŁOCHY
LOMBARDIA
MILANO
Modulazione genetica e farmacologica del recettore mGlu5 per migliorare i difetti neurologici nella sindrome di Phelan-McDermid
Consiglio Nazionale delle Ricerche
Istituto di Neuroscienze
WŁOCHY
LOMBARDIA
MILANO
TC NER: Transcription stress Counteracted by Nutritional interventions of Exceptional importance for rare DNA Repair diseases - IT
IFOM - Istituto FIRC di Oncologia Molecolare
Firc Institute of Molecular Oncology (IFOM)
WŁOCHY
LOMBARDIA
MILANO
Dallo studio dei meccanismi molecolari patogenetici alla base delle sindromi dovute a microduplicazioni e microdelezioni del cromosoma 7q11.23 alla scoperta di trattamenti terapeutici
IRCCS Istituto Europeo di Oncologia
Stem cell epigenetics Unit
WŁOCHY
LOMBARDIA
MILANO
Studio della deregolazione dipendente da Polycomb nella Sindrome di Weaver tramite l'uso di tipi cellulari neurali derivati da paziente
IRCCS Istituto Europeo di Oncologia
WŁOCHY
LOMBARDIA
MILANO
Sindrome di Joubert e altre malformazioni cerebellari geneticamente determinate. Analisi in vivo in modelli animali
IRCCS Ospedale San Raffaele
U.O. di Genetica dello Sviluppo Neurale
WŁOCHY
LOMBARDIA
MILANO
TREAT-SGS: Sviluppo e test preclinico in modelli cellulari umani e in topi transgenici di un nuovo trattamento per la sindrome di Schinzel-Giedion - IT
IRCCS Ospedale San Raffaele
Divisione di Neuroscienze
WŁOCHY
LOMBARDIA
MILANO
TREAT-SGS: Sviluppo e test preclinico in modelli cellulari umani e in topi transgenici di un nuovo trattamento per la sindrome di Schinzel-Giedion - IT
Università degli Studi di Milano Bicocca
Uiniversità degli Studi di Milano Bicocca
WŁOCHY
LOMBARDIA
ROZZANO
Dallo studio dei meccanismi molecolari patogenetici alla base delle sindromi dovute a microduplicazioni e microdelezioni del cromosoma 7q11.23 alla scoperta di trattamenti terapeutici
IRCCS Istituto Clinico Humanitas
Istituto Clinico Humanitas
WŁOCHY
PUGLIA
BARI
Regolazione genica e metabolica dell'equilibrio redox nella sindrome di Down: ruolo del sistema ubiquitina-proteasoma, del metabolismo energetico mitocondriale, dei miRNAs ed effetto protettivo di composti naturali ad azione antiossidante
Consiglio Nazionale delle Ricerche
Istituto di Biomembrane e Bioenergetica
WŁOCHY
TOSCANA
PISA
La regolazione del cloro intracellulare nel cervello autistico: dalla ricerca di base alla identificazione di nuovi bersagli farmacologici
Consiglio Nazionale delle Ricerche - NEST
Istituto di Nanoscienze
WŁOCHY
TOSCANA
SESTO FIORENTINO (FIRENZE)
PREDACTING: Predicting the clinical outcome of non-muscle actinopathies - IT
Università degli Studi di Firenze
Dipartimento di Biologia
WŁOCHY
VENETO
PADOVA
La regolazione del cloro intracellulare nel cervello autistico: dalla ricerca di base alla identificazione di nuovi bersagli farmacologici
CNR - Istituto di Neuroscienze
Istituto di Neuroscienze
JAPONIA
JAPAN
KYOTO
Development of novel therapeutics for Fibrodysplasia Ossficancs Progressiva
Institute for Frontier Life and Medical Sciences, Kyoto University
HOLANDIA
Gelderland
NIJMEGEN
TREATCilia: Novel Therapeutic Avenues for dynein-related Ciliopathies
Radboudumc - Radboud universitair medisch centrum
Afdeling Genetica
HOLANDIA
Noord-Holland
AMSTERDAM
Etiologie van Cornelia de Lange Syndroom
Amsterdam UMC, locatie AMC
Kinderpolikliniek Klinische Genetica
HOLANDIA
Noord-Holland
AMSTERDAM
Etiologie van Rubinstein-Taybi Syndroom
Amsterdam UMC, locatie AMC
Kinderpolikliniek Klinische Genetica
HOLANDIA
Noord-Holland
AMSTERDAM
Etiologie van Nicolaides-Baraitser Syndroom
Amsterdam UMC, locatie AMC
Kinderpolikliniek Klinische Genetica
HOLANDIA
Noord-Holland
AMSTERDAM
Versterkte litteken vorming in Rubinstein-Taybi Syndroom
Amsterdam UMC, locatie AMC
Kinderpolikliniek Klinische Genetica
HOLANDIA
Noord-Holland
AMSTERDAM
Etiologie van Cornelia de Lange Syndroom
Amsterdam UMC, locatie AMC
Polikliniek Algemene Kindergeneeskunde
HOLANDIA
Noord-Holland
AMSTERDAM
Etiologie van Rubinstein-Taybi Syndroom
Amsterdam UMC, locatie AMC
Polikliniek Algemene Kindergeneeskunde
HOLANDIA
Noord-Holland
AMSTERDAM
Etiologie van Nicolaides-Baraitser Syndroom
Amsterdam UMC, locatie AMC
Polikliniek Algemene Kindergeneeskunde
NORWEGIA
Østlandet
OSLO
Oversettelse og pilotutprøving av online intervensjonsprogram for ungdom
Oslo University Hospital, Rikshospitalet
SSD - Senter for sjeldne diagnoser
NORWEGIA
Østlandet
SIGGERUD
Erfaringer fra personer med Smith-Magenis syndrom - En Q-metodologistudie
Frambu kompetansesenter for sjeldne diagnoser
PORTUGALIA
SUL
LISBOA
O estudo de mutações relacionadas com o Síndroma Antley-Bixler na oxireductase do citocromo P450: polimorfismo do CYPOR e o complexo enzimático do citocromo P450.
Centro de Investigação em Genética Molecular Humana
HISZPANIA
Aragón
ZARAGOZA
Redefiniendo el espectro Cornelia de Lange mediante la integración de nuevos datos clínicos, genómicos, transcriptómicos y metabolómicos
Universidad de Zaragoza. Facultad de Medicina
Laboratorio de Genética Clínica y Genómica Funcional
HISZPANIA
Cataluña
BARCELONA
Desarrollo de organoides 3D humanos para comprender el impacto diferencial del síndrome de haploinsuficiencia en DYRK1A en el SNC
Fundació Clínic per a la Recerca Biomèdica
Grupo Terapia génica y cáncer
HISZPANIA
Cataluña
BARCELONA
Modelos celulares para la detección de drogas de alto contenido en la terapéutica de la anemia de Fanconi
IIB Sant Pau - Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
Grupo de investigación en Síndromes de reparación del DNA y predisposición al cáncer
HISZPANIA
Cataluña
BARCELONA
Vinculación de defectos celulares con las manifestaciones clínicas en el síndrome de Cohen
IRB Barcelona - Instituto de Investigación Biomédica
Grupo de Organización de Microtúbulos
HISZPANIA
Cataluña
BARCELONA
Inhibición de ACVR1-PI3K en Fibrodisplásia osificante progresiva: nuevas terapias para la osificación heterotópica
Universitat de Barcelona. Facultat de Medicina
Grupo de Endocrinologia y Metabolismo
HISZPANIA
Cataluña
BARCELONA
Detección de factores genéticos estructurales modificadores del fenotipo en una población con defectos congénitos
Vall d'Hebron Institut de Recerca VHIR
Vall d'Hebron Institut de Recerca
HISZPANIA
Cataluña
ESPLUGUES DE LLOBREGAT
El microbioma intestinal como diana terapéutica en el síndrome de Prader-Willi: efectos metabólicos y en el comportamiento de los pacientes
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu
HISZPANIA
Cataluña
ESPLUGUES DE LLOBREGAT
TeraTRAF: Aproximación a la terapia en patologías debidas a mutaciones en TRAF7
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu
Grupo de investigación del Metabolismo energético mitocondrial
HISZPANIA
Cataluña
SABADELL
Efecto de la estimulación de la propiocepción profunda sobre los trastornos del sueño, el comportamiento y la conectividad cerebral en pacientes con síndrome de Prader-Willi
Parc Taulí Hospital Universitari
Fundació Parc Taulí - Institut Universitari UAB
HISZPANIA
Comunidad Valenciana
SANT JOAN D'ALACANT
Transcripción espurial neuronal y desregulación de estimuladores en la etiología de la discapacidad intelectual
Instituto de Neurociencias de Alicante (CSIC-UMH)
Regulación transcripcional de la plasticidad neural
HISZPANIA
Comunidad Valenciana
VALENCIA
Vinculación de defectos celulares con las manifestaciones clínicas en el síndrome de Cohen
Centro de Investigación Príncipe Felipe (CIPF)
Banco de Líneas Celulares
HISZPANIA
Comunidad Valenciana
VALENCIA
Perfiles transcriptómicos y secretómicos tras cultivo extendido de embriones humanos euploides y aneuploides para el cromosoma 21
Hospital Universitario y Politécnico La Fe
Fundación para la Investigación del Hospital Universitari La Fe
HISZPANIA
Galicia
VIGO
Mecanismos moleculares en ciliopatías
Universidade de Vigo
Grupo de Enfermedades raras
HISZPANIA
Madrid
MADRID
Efectos del agonista no peptídico del receptor de trombopoyetina (Eltrombopag) en la hematopoyesis de los pacientes con anemia de Fanconi
Hospital Infantil Universitario Niño Jesús
Servicio de Hematología y Hemoterapia
HISZPANIA
Madrid
MADRID
FANEDIT: Edición génica, una nueva estrategia terapéutica para la anemia de Fanconi - ES
Hospital Infantil Universitario Niño Jesús
Servicio de Hematología y Hemoterapia
HISZPANIA
Madrid
MADRID
FANEDIT: Edición génica, una nueva estrategia terapéutica para la anemia de Fanconi - ES
Hospital Universitario Fundación Jiménez Díaz
SZWECJA
Region Stockholm
HUDDINGE
Oxysteroler vid hälsa och sjukdom
Karolinska Institutet
Department of laboratory medicine (LABMED)
SZWECJA
Region Stockholm
SOLNA
Molekylära och funktionella studier av Scc2 och SCC4 i DNA-reparation, genreglering och Genome integritet i Cornelia de Lange syndrom
Karolinska Institutet
Department of Cell and Molecular Biology (CMB)
SZWECJA
Region Stockholm
SOLNA
Understanding Genetic Mechanisms in Disorders and Development of Diagnostic Methods
Karolinska Institutet
Department of Molecular Medicine and Surgery (MMK)
SZWECJA
Region Västra Götaland
GÖTEBORG
TREAT-SGS: Development and preclinical testing in human cell models and transgenic mice of a novel treatment for Schinzel-Giedion Syndrome - SE
Göteborgs Universitet
Department of Chemistry & Molecular Biology
SZWECJA
Region Örebro län
ÖREBRO
Kognitiv hörselvetenskapsstudie om Ushers syndrome, Alströms syndrome, CHARGE och andra syndromala hörselnedsättningar.
Örebro Universitetssjukhus
Örebro University Hospital
SZWAJCARIA
Suisse Alémanique
BASEL
RAinRARE: Integrated analyses of retinoic acid signaling to understand and treat rare form of progressive motor impairment - CH
Universitätsspital Basel
Department of Biomedicine
SZWAJCARIA
Suisse Alémanique
SCHLIEREN
Understanding the molecular mechanisms underlying phenotypic variability in ciliopathies II
Universität Zürich
Institut für Medizinische Genetik
SZWAJCARIA
Suisse Alémanique
ZURICH
FANEDIT: Gene editing as a novel therapeutic strategy in Fanconi anemia - CH
ETH Zurich - Hönggerberg campus
Institute of Molecular Health Sciences
SZWAJCARIA
Suisse Romande
FRIBOURG
The Differential Roles of Positive Emotions and Emotion Regulation for Socio-Emotional Processes in Developmental Disabilities: Insights for Future Interventions
Universität Freiburg
Heilpädagogisches Institut
SZWAJCARIA
Suisse Romande
GENÈVE
The Swiss 22q11DS longitudinal cohort: understanding psychosis proneness through negative symptoms
UNIGE Université de Genève
Service Médico-Pédagogique Département de Psychiatrie
ZJEDNOCZONE KRÓLESTWO
Greater Manchester
ADDRESS: NOT PROVIDED - UK
Characterizing the neural crest response to BMP signaling through gastrulation and neurulation - UK
Institution: Information not provided - UK
ZJEDNOCZONE KRÓLESTWO
West Midlands
BIRMINGHAM
EURO-WABB: EURO-Rare Diabetes Project (coordination)
Birmingham Children's Hospital NHS Foundation Trust
Diabetes Unit
STANY ZJEDNOCZONE AMERYKI
Maryland
BETHESDA
Drug repurposing screening for rare and neglected diseases
National Center for Advancing Translational Sciences (NCATS-NIH)
Therapeutic Development Branch
STANY ZJEDNOCZONE AMERYKI
Maryland
BETHESDA
Bmp inhibitors to treat fibrodysplasia ossificans progressiva
National Center for Advancing Translational Sciences (NCATS-NIH)
Therapeutics for Rare and Neglected Diseases
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Systematic whole genome analyses of the cardiopharyngeal gene regulatory network in a simple chordate.
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Functional characterization of a causative gene for intellectual disability
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Therapeutics for rare and neglected diseases - science
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Development of bone morphogenetic protein inhibitors to treat blood and bone disorders
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
A drug-screening platform for autism spectrum disorders using human neurons and astrocytes
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Use of rapamycin for the treatment of hypertrophic cardiomyopathy in patients with leopard syndrome
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Lum-001 as a treatment for creatine transporter deficiency
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Long-acting parathyroid hormone analog for the treatment of hypoparathyroidism
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Cell biology of metabolic disorders
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Clinical and molecular studies of malformations
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Fanconi anemia:genotype-phenotype correlations
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Genetic epidemiology of complex diseases
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Genetics of brain development
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Cilium-associated structures in rod cells
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Generation of induced pluripotent stem (ips) cell lines from somatic cells of participants with eye diseases and from somatic cells of matched controls
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Mechanisms of retinal degeneration in inherited diseases
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
National ophthalmic disease genotyping and phenotyping network - eyegene
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Neuro-ophthalmic mechanisms of disease
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Innate immune regulation of stem cells in bone formation
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Accessory membrane and intracellular mediators in bone cell mechanotransduction
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Intersection of upregulated bmp signaling & cellular mechanotransduction in fibrodysplasia ossificans progressiva (fop)
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Using a disease-affected cell to synthesize its own drug
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Mechanisms regulating neural progenitor expansion in the developing brain
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Prdm16 function in neural development
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Mechanisms of fmrp mediated translational repression
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Neural coordination and discoordination in fmr1 null mice
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Zfp423 mechanisms in joubert syndrome and related disorders
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
The role of arl13b in transcription-independent sonic hedgehog regulation of axon guidance
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Fmr1 premutation phenotypes in population-based & clinically-ascertained samples
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Project III: a drosophila model for cornelia de lange syndrome
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Impact of cognition on balance and gait markers for fxtas
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Loss and rescue of endocannabinoid-dependent ltp and memory in fragile-x model mice
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Memory measures for clinical trials in down syndrome and fragile x syndrome
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
The effects of parenting on the development and behavior of adolescents with fxs
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Cardiac interaction networks as determinants of transcriptional specificity
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Characterization of the role of pofut2-mediated o-fucosylation in folding thrombospondin type 1 repeats and development
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Epigenetic therapy and prader-willi syndrome
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Fa ddr pathway in germline integrity
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Function of slack potassium channels in early onset epilepsy and intellectual disabilities
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Oxysterols in slos neurodevelopment: pathological role and therapy
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
A zebrafish model of phenotypic variation associated with fraser syndrome
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Clinical investigations of smith-lemli-opitz syndrome
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Epigenetic mechanisms regulating the igf2/h19 and kcnq1 locus
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Genetic architecture and molecular pathogenesis of joubert syndrome
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Genes for non-syndromic congenital heart disease
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Impact of cgg repeats on fmr1 gene function and human health
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Genetic modifiers of congenital heart disease
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
In vivo lentiviral gene therapy for hurler syndrome
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Inborn errors of cholesterol synthesis
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Mammalian developmental genetics and stem cells
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Mechanisms of neocortical and sensory hyperexcitability in fragile x syndrome
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Molecular and synaptic mechanisms of auditory circuit dysfunction in fxs mice
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Mouse functional analysis of genes for congenital heart disease
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Neuroendocrine regulation of metabolism and neurocognition
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Physiology; psychology; and genetics of obesity
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Potassium channels and dendritic function in hippocampal pyramidal neurons
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Project 1: gene networks for social cognition in williams syndrome
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Project 2: modeling williams syndrome using human neurons
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Project 3: cellular architectonics and local circuits
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Project 4: neuroimaging of social circuitry
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Project 5: characterization of social phenotype
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Project I: molecular etiology of structural birth defects in cdls
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Project: genetic basis of intellectual disability in 22q11.2 deletion syndrome
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Rescuing fragile x syndrome by targeting p70 s6 kinase 1
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Rescuing the fragile x syndrome by cpeb depletion
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Strategies to rescue pi3k dysregulation in fragile x syndrome
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Nipbl, cohesin and related structural birth defects
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Project 1: genetic mechanisms for conotruncal heart malformations
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Molecular etiology of structural birth defects in cdls
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Signaling pathways regulating oligodendrocyte development and function
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Developing an Integrated Rare Disease Bioinformatics Resource to Determine Phenotype to Genotype Correlations
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Integrated Microphysiological System of Cerebral Organoid and Blood Vessel for Disease Modeling and Neuropsychiatric Drug screening
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Exploring the role of gonadotropins in Down syndrome
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Ocular complications of CHARGE Syndrome: The role of Sox11
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Stimulating Retina Regeneration from Muller Cells in Progressive Retinal Degenerations
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Structural basis of BBSome-mediated ciliary exit
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
The contribution of innate immunity to heterotopic ossification in fibrodysplasia ossificans progressiva
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Characterizing the neural crest response to BMP signaling through gastrulation and neurulation - UK
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Characterizing the neural crest response to BMP signaling through gastrulation and neurulation - US
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
The Role of Astrocytes in the Fragile X Pathogenesis
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Human cerebral organoids as a model system for neural development and disease
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
The FMR1 CGG repeat as functional element and therapeutic target in Fragile X associated disorders
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Molecular underpinnings of Prader-Willi syndrome
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Imprinted snoRNA loci and circadian entrainment
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Preparing for a Clinical Trial in Kabuki Syndrome- Characterization of Cognitive and Neuroanatomical Features and Pilot Treatment Trial
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Role of Beta3-Glucosyltransferase in a non-canonical quality control pathway
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Circuit Defects Underlying Sensory Hypersensitivity in Fragile X Syndrome
Institution: Information not provided - US
FRANCJA
ILE-DE-FRANCE
PARIS
OPALE: Observatoire Des Patients Atteints de Laminopathies et Emerinopathies
Institut de Myologie - Hôpital Pitié-Salpêtrière
Centre de Recherche en Myologie
WŁOCHY
CAMPANIA
NAPOLI
Studio delle mutazioni del gene ARX identificate in pazienti affetti da malattie del neurosviluppo
Istituto di Genetica e Biofisica "Adriano Buzzati Traverso" - CNR
Human Molecular Neurogenetics Laboratoty
HISZPANIA
Cataluña
ESPLUGUES DE LLOBREGAT
M.BRAIN: Organoides de cerebro para síndromes relacionados con MAGEL2
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu
Grupo de investigación del Metabolismo energético mitocondrial
ZJEDNOCZONE KRÓLESTWO
Hampshire
SOUTHAMPTON
Imprinting Disorders Finding Out Why (observational clinical study, mutation search - PLAGL1, ZFP57 and IGF2 genes) and genotype-phenotype correlation)
Faculty of Medicine - University of Southampton
Human Genetics
ZJEDNOCZONE KRÓLESTWO
Lothian
EDINBURGH
Identification of genes for Microcephalic Primordial Dwarfism (MOPD I, MOPD II, Seckel syndrome and Meier-Gorlin syndrome), and Primary Microcephaly (with short stature)
Western General Hospital
MRC Human Genetics Unit
STANY ZJEDNOCZONE AMERYKI
South Dakota
SIOUX FALLS
The cellular functions of Notch signaling that prevent the renal cysts associated with the Alagille Syndrome and Hadju-Cheney Syndrome
Sanford Research
Surendran Lab
STANY ZJEDNOCZONE AMERYKI
South Dakota
SIOUX FALLS
Cellular and molecular mechanisms by which aberrant Notch signaling causes cystic kidney disease
Sanford Research
Surendran Lab
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Skeletal Genomics
Institution: Information not provided - US
KANADA
Ontario
TORONTO
Improving treatment for GRIN disorders
University of Toronto
Department of Pharmacology & Toxicology
FRANCJA
ILE-DE-FRANCE
GARCHES
Hétérotopies laminaires sous-corticales et lissencéphalies: corrélations radio-cliniques et mutations dans le gène double cortine
CHU Paris IdF Ouest - Hôpital Raymond Poincaré
Unité : Neurologie Pédiatrique
NIEMCY
Sachsen
DRESDEN
Zerebrale Organoide als Model des neuronalen Phänotyps von nicht-muskulären Aktinopathien
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Institut für Klinische Genetik
HISZPANIA
Cataluña
L'HOSPITALET DE LLOBREGAT
Delineación integral y medicina personalizada de los trastornos del neurodesarrollo relacionados con GRIN, una encefalopatía pediátrica rara
IDIBELL - Instituto de Investigación Biomédica de Bellvitge
Grupo de Neurofarmacología y Dolor
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
The role of dystroglycan in neural circuit development.
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Functional mechanisms underlying dystroglycan-dependent and independent roles of protein o-mannosylation in the nervous system
Institution: Information not provided - US
Wieloośrodkowy projekt badawczy
- Universitätsklinikum Magdeburg A.ö.R
- MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
- Cliniques universitaires Saint-Luc - UCLouvain
- Laboratory of Nephrology
- McGill University
- Division of Endocrinology and Metabolism
- CHU Sainte-Justine
- Département de pédiatrie
- Centre hospitalier universitaire Sainte-Justine
- Génétique médicale
- Montreal Neurological Institute and Hospital
- McGill University
- CHU de Lyon HCL - GH Est-Hôpital Femme Mère Enfant
- Service d'epileptologie clinique, des troubles du sommeil et de neurologie fonctionnelle de l'enfant
- CHU Paris - Hôpital Robert Debré
- UF de Génétique clinique
- IFM - Institut du Fer à Moulin
- Equipe " Développement cortical et pathologie "
- Université Paul Sabatier
- Laboratoire de Biologie Moléculaire Eucaryote - UMR 5099
- Institut für Humangenetik der Universität Göttingen
- Institut für Humangenetik
- Universitätsklinikum Aachen
- Institut für Humangenetik
- CECAD Research Center
- Exzellenzcluster CECAD in der Universität zu Köln
- Universitätsklinikum Carl Gustav Carus an der TU Dresden
- Institut für Klinische Genetik
- TIGEM - Telethon Institute of Genetics and Medicine
- Laboratorio di Ricerca
- TIGEM - Telethon Institute of Genetics and Medicine
- Laboratorio di Ricerca
- IRCCS Istituto Europeo di Oncologia
- Stem cell epigenetics Unit
- Fondazione IRCCS Policlinico San Matteo
- Laboratorio di Diagnostica Molecolare, Patologia Cardiovascolare e dei Trapianti
- Azienda Ospedaliera Universitaria Anna Meyer
- Neurologia Pediatrica
- University of Trento
- Chromatin & Epigenetics Laboratory
- Radboudumc - Radboud universitair medisch centrum
- Afdeling Genetica
- Radboudumc - Radboud universitair medisch centrum
- Afdeling Genetica
- UMC Utrecht - Universitair Medisch Centrum Utrecht
- Section Genetics
- Centro de Regulación Genómica
- Hospital Universitario Fundación Jiménez Díaz
- Centre Hospitalier Universitaire Vaudois CHUV
- Service de recherche en oncologie
- Developmental Psychiatry - University of Cambridge
- Learning Disabilities Research Group
- Department of Health
- UCL Institute for Women's Health
- UCLH Women's Health Division
- Institution: Information not provided - US
NIEMCY
Sachsen-Anhalt
MAGDEBURG
International Clearinghouse for Birth Defects Monitoring Systems
BELGIA
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
EUNEFRON: the European network for the study of orphan nephropathies
KANADA
Québec
MONTREAL,
PHYSPATH-KS: Understanding the pathophysiology of Keutel Syndrome: A path towards cure
KANADA
Québec
MONTRÉAL
CoHEART : Improving care for Cohesinopathies, from heart phenotypes to novel therapies
KANADA
Québec
MONTRÉAL
RAinRARE: Integrated analyses of retinoic acid signaling to understand and treat rare form of progressive motor impairment
KANADA
Québec
MONTRÉAL
TREAT-SGS: Development and preclinical testing in human cell models and transgenic mice of a novel treatment for Schinzel-Giedion Syndrome
FRANCJA
AUVERGNE-RHONE-ALPES
BRON
NEUROPED: réseau européen de référence pour les maladies neurologiques rares en pédiatrie
FRANCJA
ILE-DE-FRANCE
PARIS
EUROMICRO: Primary monogenic microcephalies : from genetics to pathophysiology and the clinic
FRANCJA
ILE-DE-FRANCE
PARIS
HETER-OMICS: Multi-OMICS interrogation of cerebral cortical malformations
FRANCJA
OCCITANIE
TOULOUSE
RIBOEUROPE: The European Ribosomopathy Consortium
NIEMCY
Niedersachsen
GÖTTINGEN
CRANIRARE: An integrated clinical and scientific approach for craniofacial malformations
NIEMCY
Nordrhein-Westfalen
AACHEN
EUCID.net: Europäisches Netzwerk für angeborene Imprinting-Erkrankungen
NIEMCY
Nordrhein-Westfalen
KÖLN
TC NER: Transcription stress Counteracted by Nutritional interventions of Exceptional importance for rare DNA Repair diseases
NIEMCY
Sachsen
DRESDEN
PREDACTING: Predicting the clinical outcome of non-muscle actinopathies
WŁOCHY
CAMPANIA
NAPOLI
EUCILIA: Pathophysiology of rare diseases due to ciliary dysfunction: nephronophthisis, oral-facial-digital type 1 and bardet-biedl syndromes
WŁOCHY
CAMPANIA
NAPOLI
22q11.2 deletion syndrome: Novel approaches to understand cardiopharyngeal pathogenesis
WŁOCHY
LOMBARDIA
MILANO
DISEASEAVATARS: Modeling Disease through Cell Reprogramming: a Translational Approach to the Pathogenesis of Syndromes Caused by Symmetrical Gene Dosage Imbalances
WŁOCHY
LOMBARDIA
PAVIA
GIMS: Gruppo Interdisciplinare Sindrome di Marfan
WŁOCHY
TOSCANA
FIRENZE
DESIRE: Development and Epilepsy - Strategies for innovative research to improve diagnosis, prevention and treatment in children with difficult to treat epilepsy
WŁOCHY
TRENTINO ALTO ADIGE
POVO
Chrom_rare: Unveiling the molecular basis of chromatinopathies to delineate innovative therapeutic solutions
HOLANDIA
Gelderland
NIJMEGEN
EURO-MRX: European mental retardation consortium
HOLANDIA
Gelderland
NIJMEGEN
IMPACT: Identification of converging Molecular Pathways Across Chromatinopathies as Targets for Therapy
HOLANDIA
Utrecht
UTRECHT
CantuTreat: Sulfonylurea drugs to treat Cantú syndrome
HISZPANIA
Cataluña
BARCELONA
CUREFXS: targeting Rho-signalling, a new therapeutic avenue in fragile-X syndrome
HISZPANIA
Madrid
MADRID
FANEDIT: Gene editing as a novel therapeutic strategy in Fanconi anemia
SZWAJCARIA
Suisse Romande
LAUSANNE
TheraLymph: Therapeutic approaches for treatment of hereditary lymphedema
ZJEDNOCZONE KRÓLESTWO
Cambridgeshire
CAMBRIDGE
PWS: Prader-Willi Syndrome: a model linking gene expression, obesity and mental health
ZJEDNOCZONE KRÓLESTWO
Greater London
LONDON
RASopathy network: disorders of the Ras-MAPK pathway
ZJEDNOCZONE KRÓLESTWO
Greater London
LONDON
EuroPSI - European Network for Psychosocial Studies in Intersex / Diverse Sex Development
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US