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Projekt badawczy
HISZPANIA
Madrid
MADRID
Evaluación de la utilización del exoma fetal como herramienta para la identificación de la base genética de las alteraciones ecográficas mayores
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en genética y herencia
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
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
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
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
iPS cells to model vascular disease in patients with Williams Beuren syndrome
Hospital for Sick Children, Research Institute
KANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
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
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
FINLANDIA
Finland
HELSINKI
RAPADILINO syndrome: clinical and genetic study
Terveyden ja hyvinvoinnin laitos (THL)
Finnish Institute for Health and Welfare (THL)
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
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
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
ILE-DE-FRANCE
PARIS
EUNEFRON: rare disorders of the distal convoluted tubule (WP4)
CHU Paris IdF Ouest - HEGP Hôpital Européen Georges Pompidou
Service de génétique
FRANCJA
ILE-DE-FRANCE
PARIS
Maladies hématologiques constitutionnelles: recherche clinique, thérapeutique; biologie moléculaire
CHU Paris-GH St-Louis Lariboisière F.Widal - Hôpital Saint-Louis
Service d'hématologie pédiatrique
FRANCJA
ILE-DE-FRANCE
PARIS
spEJCificity : Caratérisation des facteurs du complexe pre-EJC et leur rôle dans la détermination du destin cellulaire - FR
ENS - École Normale Supérieure
Institut de Biologie de l'École Normale Supérieure (IBENS) - CNRS UMR8197 / Inserm U1024
FRANCJA
ILE-DE-FRANCE
PARIS
FRANCJA
ILE-DE-FRANCE
PARIS
STaHR : Stimulation de la Recombinaison Homologue pour la Thérapie Génique - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196
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
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
La communication dans le syndrome Prader-Willi : Etude du contrôle émotionnel lié aux troubles du comportement, de leurs répercussions au quotidien et examen de thérapies innovantes
Université Victor Segalen Bordeaux 2
Laboratoire de Psychologie (EA4139)
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
Diagnostic Prénatal Non Invasif sur Les Cellules Trophoblastiques Foetales en Circulation Isolée (CFTC) pour Les Maladies à Répétition De Triplets
CHU de Montpellier - IURC
Laboratoire de Génétique Moléculaire
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
FROGH : Etude Génétique de la Population Française - FR
Institut de Recherche en Santé - Université de Nantes
L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291
FRANCJA
PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
CaGeD : Dynamiques Cardiogeniques du Genome
Faculté de Médecine de la Timone
Centre d'enseignement et de recherche en génétique médicale - INSERM UMR S910
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
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
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
Baden-Württemberg
ULM
GeNeRARe: Deutsches Forschungsnetzwerk für RASopathie
Institute of Comparative Molecular Endocrinology der Universität Ulm
Cirstea Lab
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
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
GeNeRARe: Deutsches Forschungsnetzwerk für RASopathie
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
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
GeNeRARe: Deutsches Forschungsnetzwerk für RASopathie
Universitätsmedizin Göttingen
Klinik für Thorax-, Herz- und Gefäßchirurgie
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
DÜSSELDORF
GeNeRARe: Deutsches Forschungsnetzwerk für RASopathie
Heinrich-Heine-Universität Düsseldorf
Institut für Biochemie und Molekularbiologie II
NIEMCY
Nordrhein-Westfalen
DÜSSELDORF
ADDRess: Translationale Forschung für Personen mit DNA Reparaturdefekten
Universitätsklinikum Düsseldorf
Institut für Pathologie
NIEMCY
Rheinland-Pfalz
MAINZ
TIC-PEA: Telemedizinische interdisziplinäre Versorgung von Patienten mit Ösophagusatresie
Universitätsmedizin Mainz
Klinik und Poliklinik für Kinderchirurgie
NIEMCY
Saarland
HOMBURG
Untersuchung des funktionalen Sehens bei mehrfachbehinderten sehgeschädigten Kindern
Universitätsklinikum des Saarlandes
AG Kinder- & Neuroophthalmologie
NIEMCY
Sachsen
DRESDEN
Nicht-muskuläre Aktinopathien: Baraitser-Winter Cerebrofrontofaciales Syndrom und verwandte Erkrankungen
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Institut für Klinische Genetik
NIEMCY
Sachsen
DRESDEN
EXOSC2-Zebrafischmodell und Exosom: Analyse der Rolle von EXOSC2 bei der Entwicklung des HK-Syndroms
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Institut für Klinische Genetik
NIEMCY
Sachsen-Anhalt
MAGDEBURG
GeNeRARe: Deutsches Forschungsnetzwerk für RASopathie
Otto-von-Guericke-Universität Magdeburg
Abteilung Genetik & Molekulare Neurobiologie
IRLANDIA
County Dublin
DUBLIN
Longitudinal assessment of cardiac function in infants with Downs Syndrome using novel echocardiography techniques
Rotunda Hospital
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
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
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 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
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
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
JAPONIA
JAPAN
AICHI
Management ofthe clinical diagnostic centre for rare intractable diseases with genome instability and development of potential therapeutic medicine
Research Institute of Environmental Medicine, Nagoya University
JAPONIA
JAPAN
AICHI
Establishment of the Next-generation Muti-omics Clinical Diagnostic Centre for rare intractable diseases with genome instability
Research Institute of Environmental Medicine, Nagoya University
JAPONIA
JAPAN
IBARAKI
Identifying responsible genes for chromosomal deletion syndromes using genome-editing-technology-based screening system on patient-specific-iPSC-based disease models
RIKEN BioResource Research Center
iPS Cell Advanced Characterization and Development Team
JAPONIA
JAPAN
MIYAGI
Pathogenesis and novel therapeutic approarches in RASoapthies
Tohoku University School of Medicine
Department of Medical Genetics
JAPONIA
JAPAN
NAGASAKI
Drug Screening and development of rapid diagnostic technique for the DNA methylation abnormality due to the mutation in histone modification enzymes
Atomic Bomb Disease Institute, Nagasaki University
Department of Human Genetics
JAPONIA
JAPAN
TOKUSHIMA
Clarification of the pathological mechanisms of cerebral creatine deficiency syndrome using creatine prodrugs and establishment of the diagnostic and therapeutic strategies.
Faculty of Pharmaceutical Sciences, Tokushima University
JAPONIA
JAPAN
TOKYO
Study aiming at elucidation of the pathoiogy of multiple congenital anomaly syndrome by utilizing diseases- specific iPSCs and development of novel treatment methods
Keio University School of Medicine
JAPONIA
JAPAN
TOKYO
Exploration of basic pathogenesis of imprinting disorders
National Center for Child Health and Development
Department of Molecular Endocrinology
JAPONIA
JAPAN
TOKYO
Study of clinical features and treatment of imprinting disorders and related disorders
National Center for Child Health and Development
Department of Molecular Endocrinology
JAPONIA
JAPAN
TOKYO
Formation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute
JAPONIA
JAPAN
TOKYO
Comprehensive study for clinical support and making guideline of Rett syndrome and MECP2 duplication syndrome
National Center of Neurology and Psychiatry
Department of Mental Retardation and Birth Defect Research
JAPONIA
JAPAN
TOKYO
Providing evidence for the integrated physical, psychological, and social support of adolescents and young adults (AYA) with intractable diseases by focusing on 22q11.2 deletion syndrome as the model
The University of Tokyo Hospital
Department of Neuropsychiatry
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
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
Andalucía
MÁLAGA
Medicina de sistemas aplicada a la identificación de nuevas dianas terapéuticas en enfermedades raras de base genética
Universidad de Málaga. Facultad de Ciencias
Departamento de Biología Molecular y Bioquímica
HISZPANIA
Andalucía
SEVILLA
Modelos matemáticos de mecanismos de enfermedad para la reformulación de fármacos en enfermedades raras
Fundación Progreso y Salud
Área de bioinformática clínica
HISZPANIA
Andalucía
SEVILLA
Investigación biomédica e innovación clínica en distrofias hereditarias de retina: hacia la medicina personalizada en enfermedades raras
Hospital Universitario Virgen del Rocío
Unidad de Medicina Maternofetal, Genética y Reproducción
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
Baleares
PALMA DE MALLORCA
Identificación de las vías de señalización que permiten la corrección de cardiopatías congénitas "in utero" de forma natural. Bases para una terapia prenatal
Hospital Universitario Son Espases
Unidad de Diagnostico Molecular y Genética Clinica
HISZPANIA
Cataluña
BARCELONA
Estudios funcionales y de identificación de estrategias terapéuticas en discapacidad intelectual: TRIM28, TRAF7 y MAGEL2
Universitat de Barcelona. Facultat de Biologia
Departamento de genética molecular humana
HISZPANIA
Cataluña
SABADELL
Efecto del tratamiento con hormona de crecimiento sobre la conectividad cerebral y la estructura de las áreas relacionadas con el tono muscular en adultos con síndrome de Prader-Willi
Corporación Sanitaria Parc Taulí. Hospital de Sabadell
Servicio de endocrinología y nutrición
HISZPANIA
Comunidad Valenciana
SANT JOAN D'ALACANT
Mecanismos moleculares de la holoprosencefalia asociada a Zic2
Instituto de Neurociencias de Alicante (CSIC-UMH)
Unidad de Neurobiología del Desarrollo
HISZPANIA
Galicia
VIGO
Mecanismos moleculares en ciliopatías
Universidade de Vigo
Grupo de Enfermedades raras
HISZPANIA
Madrid
MADRID
Desarrollo de algoritmos bioinformáticos basados en redes y biología de sistemas para la búsqueda de nuevos genes responsables de enfermedades raras de origen genético
Fundación Jiménez Díaz
Área de Genética y Genómica
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
Análisis de mosaicismo genético mediante NGS. Aplicación en patologías raras y en modelos celulares y animales por edición genética
Hospital Universitario Ramón y Cajal
Servicio de Genética
HISZPANIA
Madrid
MADRID
Descifrando la complejidad genética del hipopituitarismo congénito
INGEMM - Instituto de Genética Médica y Molecular (IdiPAZ)
Sección de Endocrinología Molecular
HISZPANIA
Madrid
MADRID
Evaluación genómica en el Síndrome de Wolf-Hirschhorn; Microarrays personalizados de SNPS y genes candidatos: aproximación a las alteraciones dentales y a una epilepsia compleja
INGEMM - Instituto de Genética Médica y Molecular (IdiPAZ)
Sección de Genómica Estructural y Funcional
SZWECJA
Region Stockholm
HUDDINGE
Oxysteroler vid hälsa och sjukdom
Karolinska Institutet - Huddinge
Division of Clinical Chemistry
SZWECJA
Region Stockholm
STOCKHOLM
Molekylära och funktionella studier av Scc2 och SCC4 i DNA-reparation, genreglering och Genome integritet i Cornelia de Lange syndrom
Karolinska Institutet - Solna
Department of Cell and Molecular Biology
SZWECJA
Region Stockholm
STOCKHOLM
Understanding Genetic Mechanisms in Disorders and Development of Diagnostic Methods
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery
SZWECJA
Region Uppsala
UPPSALA
Downs syndrome: Klinisk, epidemiologisk och molekyärgenetisk kartläggning
Uppsala Universitet
Department of immunology, Genetics and Pathology, IGP
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
ZJEDNOCZONE KRÓLESTWO
East Sussex
BRIGHTON
Characterising the functional consequences of genomic disorder associated gene copy number variation (CNV) on cell cycle checkpoint proficiency, DNA repair, genomic instability and signal transduction including its implications in 1q21.1 CNV, Wolf-Hirschhorn syndrome and 4p16.3 dup, 2p15p16 del, 11q23qter CNV, 3q29 del and 16p11.2 CNV
University of Sussex
DNA double strand break repair laboratory
ZJEDNOCZONE KRÓLESTWO
Greater London
LONDON
The role of transcription factors in regulating expression of BBS (Bardet-Biedl Syndrome) proteins
GOSH NHS Foundatin Trust
Molecular Medicine Unit
ZJEDNOCZONE KRÓLESTWO
Lothian
EDINBURGH
Identification of genes for Primordial Dwarfism (MOPD I, MOPD II, Seckel syndrome, Meier-Gorlin syndrome and Dubowitz syndrome), and Primary Microcephaly (with short stature)
Western General Hospital
MRC Human Genetics Unit
ZJEDNOCZONE KRÓLESTWO
West Midlands
BIRMINGHAM
EURO-WABB: EURO-Rare Diabetes Project (coordination)
Birmingham Children's Hospital NHS Foundation Trust
Diabetes Unit
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
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
Drug repurposing screening for rare and neglected diseases
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
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
Return of a fragile x syndrome genetic result: exploring the feedback of individual genetic findings and their relation to traditional knowledge in a village in cameroon.
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
Function of c8orf37 in photoreceptors
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
Using a disease-affected cell to synthesize its own drug
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
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
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
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
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
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
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
Wieloośrodkowy projekt badawczy
- University of British Columbia
- Maternal Infant Child and Youth Research Network
- CHU Sainte-Justine
- Département de pédiatrie
- Centre hospitalier universitaire Sainte-Justine
- Génétique médicale
- 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
- Faculté de médecine - RTH Laënnec
- Métabolomique et maladies métaboliques
- Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
- Département Médecine translationnelle et neurogénétique
- CHU Paris - Hôpital Robert Debré
- UF de Génétique clinique
- CHU Paris-GH St-Louis Lariboisière F.Widal - Hôpital Saint-Louis
- Service d'Immuno-Hématologie
- ENS - École Normale Supérieure
- Institut de Biologie de l'École Normale Supérieure (IBENS) - CNRS UMR8197 / Inserm U1024
- Hôpital Necker-Enfants Malades
- Néphropathies héréditaires et rein en développement
- Muséum National d'Histoire Naturelle
- Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196
- Institut de Recherche en Santé - Université de Nantes
- L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291
- Institut für Humangenetik der Universität Göttingen
- Institut für Humangenetik
- Universitätsklinikum Aachen
- Institut für Humangenetik
- Universitätsklinikum Magdeburg A.ö.R
- MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
- Universitätsklinikum Schleswig-Holstein - Campus Lübeck
- Institut für Humangenetik
- TIGEM - Telethon Institute of Genetics and Medicine
- Laboratorio di Ricerca
- IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
- Servizio Clinico di Consulenza Genetica
- IRCCS Istituto Europeo di Oncologia
- Stem cell epigenetics Unit
- Fondazione IRCCS Policlinico San Matteo
- Laboratorio di Diagnostica Molecolare, Patologia Cardiovascolare e dei Trapianti
- Radboudumc - Radboud universitair medisch centrum
- Afdeling Genetica
- Radboudumc - Radboud universitair medisch centrum
- Afdeling Genetica
- UMC Utrecht - Universitair Medisch Centrum Utrecht
- Section Genetics
- IBGM - Instituto de Biología y Genética Molecular
- Laboratorio de Metabolopatias
- Centro de Regulación Genómica
- Universitat Autònoma de Barcelona
- Grupo de inestabilidad genómica y reparación del DNA
- CIEMAT - Centro de Investigaciones Energéticas Medioambientales y Tecnológicas
- Terapias innovadoras en el sistema hematopoyético
- 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
- Birmingham Women's NHS Foundation Trust
- Medical and Molecular Genetics, Norton Court
- University of Birmingham
- Department of Medical and Molecular Genetics
KANADA
Colombie-Britannique
VANCOUVER
Maternal Infant Child and Youth Research Network (MICYRN)
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
FRANCJA
AUVERGNE-RHONE-ALPES
BRON
NEUROPED: réseau européen de référence pour les maladies neurologiques rares en pédiatrie
FRANCJA
AUVERGNE-RHONE-ALPES
LYON
Réseau sur les maladies de surcharge lysosomales
FRANCJA
GRAND-EST
ILLKIRCH-GRAFFENSTADEN
Réseau d'étude des retards mentaux et déficits cognitifs monogéniques
FRANCJA
ILE-DE-FRANCE
PARIS
EUROMICRO: Primary monogenic microcephalies : from genetics to pathophysiology and the clinic
FRANCJA
ILE-DE-FRANCE
PARIS
Réseau national d'étude des déficits immunitaires primitifs avec hypogammaglobulinémie de l'adulte
FRANCJA
ILE-DE-FRANCE
PARIS
spEJCificity : Caratérisation des facteurs du complexe pre-EJC et leur rôle dans la détermination du destin cellulaire
FRANCJA
ILE-DE-FRANCE
PARIS
Néphropathies kystiques du foetus et syndromes apparentés
FRANCJA
ILE-DE-FRANCE
PARIS
STaHR : Stimulation de la Recombinaison Homologue pour la Thérapie Génique
FRANCJA
PAYS DE LA LOIRE
NANTES
FROGH : Etude Génétique de la Population Française
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
Sachsen-Anhalt
MAGDEBURG
International Clearinghouse for Birth Defects Monitoring Systems
NIEMCY
Schleswig-Holstein
LÜBECK
TARGET-CdLS: Targeting unknowns in causes and phenotypes of the Cornelia de Lange Syndrome
WŁOCHY
CAMPANIA
NAPOLI
22q11.2 deletion syndrome: Novel approaches to understand cardiopharyngeal pathogenesis
WŁOCHY
LAZIO
ROMA
UnRareNet: network multicentrico di ricerca per le malattie rare non diagnosticate (terminato)
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
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
Castilla - León
VALLADOLID
Red de estudio de síndrome X frágil
HISZPANIA
Cataluña
BARCELONA
CUREFXS: targeting Rho-signalling, a new therapeutic avenue in fragile-X syndrome
HISZPANIA
Cataluña
BELLATERRA
Red Nacional de Investigación Cooperativa sobre la Anemia de Fanconi
HISZPANIA
Madrid
MADRID
Red Nacional de Investigación Cooperativa sobre la Anemia de Fanconi
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
ZJEDNOCZONE KRÓLESTWO
West Midlands
BIRMINGHAM
National Autozygosity Mapping Resource
ZJEDNOCZONE KRÓLESTWO
West Midlands
BIRMINGHAM