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Onderzoeksprojecten
BELGIË
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
EUNEFRON: rare disorders of the distal convoluted tubule (WP4)
Cliniques universitaires Saint-Luc - UCLouvain
Laboratory of Nephrology
BELGIË
HAINAUT
GOSSELIES
RIBOEUROPE: The European Ribosomopathy Consortium - BE
Biopark campus
The 'RNA Metabolism' Lab - Université Libre de Bruxelles (ULB)
BELGIË
VLAAMS BRABANT
LEUVEN
Fragile X syndrome: regulation of activity-dependent mRNA localization and translation at synapses.
UZ Leuven - Campus Gasthuisberg
Centrum Menselijke Erfelijkheid - UZ Leuven
BELGIË
VLAAMS BRABANT
LEUVEN
Molecular, biochemical and genetic study of autism in the context of "Fragile X syndrome".
UZ Leuven - Campus Gasthuisberg
Centrum Menselijke Erfelijkheid - UZ Leuven
CANADA
Alberta
EDMONTON
Autonomic nervous system function and metabolic profiling in children with PWS
University of Alberta
Department of Pediatrics, Division of Endocrinology and Metabolism
CANADA
Alberta
EDMONTON
Evidence-based approach to dietary management of Prader Willi Syndrome
University of Alberta
Department of Pediatrics, Division of Endocrinology and Metabolism
CANADA
Colombie-Britannique
VANCOUVER
Investigating the structure and function of the human autophagy regulator EPG5
University of British Columbia
Department of Biochemistry & Molecular Biology
CANADA
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
CANADA
Colombie-Britannique
VICTORIA
Silent Genomes: Reducing health care disparities and improving diagnostic success for children with genetic diseases from Indigenous populations
University of Victoria
Community Genetics Research Program/Island Medical Program
CANADA
Ontario
TORONTO
Pathobiology and robosomal insufficiency in Shwachman-Diamond syndrome
Hospital for Sick Children, Research Institute
CANADA
Ontario
TORONTO
iPS cells to model vascular disease in patients with Williams Beuren syndrome
Hospital for Sick Children, Research Institute
CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
CANADA
Ontario
TORONTO
Deciphering the Role of UBR1 E3 Ubiquitin Ligase using a C. elegans Model
Mount Sinai Hospital
Lunenfeld-Tanenbaum Research Institute
CANADA
Ontario
TORONTO
Functional Dissection of Small RNA Pathways that Impact Chromatin
University of Toronto
Department of Molecular Genetics
CANADA
Québec
MONTRÉAL
Developing retinal gene augmentation therapy for Zellweger Spectrum Disorder
Glen / McGill Univeristy Health Centre - Centre Universitaire de santé McGill
Department of pathology
CANADA
Québec
MONTRÉAL
Molecular mechanisms of CdGAP, a negative regulator of the oncogenic small GTPases Rac1 and Cdc42
McGill University - Dentistry Building
Département d'Anatomie et Biologie Cellulaire / Department of Anatomy and Cell Biology
CANADA
Québec
MONTRÉAL
The genetic basis of atypical anomalies in contiguous gene syndrome: The case of 22q11.2
Montreal Children's Hospital Research Institute - McGill University
Department of Pediatrics / Département de pédiatrie
CANADA
Québec
MONTRÉAL
Development and preclinical testing in human cell models and transgenic mice of a novel treatment for Schinzel-Giedion Syndrome
The Douglas Research Centre
Human Neuroscience
DUITSLAND
Baden-Württemberg
FREIBURG
A prospective, international, multicentre cohort study (observational study) study on patients with profound combined immunodeficiency (P-CID)
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz
DUITSLAND
Baden-Württemberg
FREIBURG
RIBOEUROPE: The European Ribosomopathy Consortium -DE
Zentrum für Kinder- und Jugendmedizin Freiburg
Klinik für Pädiatrische Hämatologie und Onkologie
DUITSLAND
Baden-Württemberg
HEIDELBERG
ADDRess: Translational research for patients with abnormal DNA Damage Response
Deutsches Krebsforschungszentrum
KITZ - Hopp-Kindertumorzentrum Heidelberg
DUITSLAND
Baden-Württemberg
HEIDELBERG
ADDRess: Translational research for patients with abnormal DNA Damage Response
Universitäts-Frauenklinik Heidelberg
Frauenheilkunde und Geburtshilfe
DUITSLAND
Baden-Württemberg
TÜBINGEN
ESPED-study: Omphaloceles and Associated Malformations in Preterm and Term Newborns
Universitätsklinik für Kinder- und Jugendmedizin Tübingen
Abteilung für Neonatologie
DUITSLAND
Bayern
MÜNCHEN
HETER-OMICS: Multi-OMICS interrogation of cerebral cortical malformations -DE
Max-Planck-Institut für Psychiatrie
DUITSLAND
Bayern
NEUHERBERG
Understanding the molecular and cellular pathways in PURA Syndrome
Helmholtz Zentrum München
Institut für Strukturbiologie - AG Niessing
DUITSLAND
Bayern
WÜRZBURG
ADDRess: Translational research for patients with abnormal DNA Damage Response
Universität Würzburg - Biozentrum
Institut für Humangenetik
DUITSLAND
Bayern
WÜRZBURG
Observational Clinical Study of Muenke Syndrome: Cognitive Function, Development, and Hearing in Patients with Muenke Syndrome
Universitätsklinikum Würzburg
Sektion für Pädiatrische Neurochirurgie
DUITSLAND
Berlin
BERLIN
Identification of molecular mechanisms acting at the jObes1 locus in the Berlin Fat Mouse with effect on juvenile fat deposition
Humboldt-Universität zu Berlin
Fachbereich Züchtungsbiologie und molekulare Genetik
DUITSLAND
Berlin
BERLIN
KCC K-Cl cotransporters and GABAergic transmission
Leibniz-Institut für Molekulare Pharmakologie
Department Physiology and Pathology of Ion Transport
DUITSLAND
Hamburg
HAMBURG
Molecular and functional investigation on microphthalmia with linear skin defects (MLS) - syndrome
UKE - Universitätsklinikum Hamburg-Eppendorf
Institut für Humangenetik
DUITSLAND
Hamburg
HAMBURG
Identification of new monogenic disease genes by means of Next Generation Sequencing
UKE - Universitätsklinikum Hamburg-Eppendorf
Institut für Humangenetik
DUITSLAND
Hessen
LANGEN
Preclinical Gene Therapy of Fanconi Anemia with Transposon-Based Approaches
Paul-Ehrlich-Institut
Abteilung Medizinische Biotechnologie
DUITSLAND
Mecklenburg-Vorpommern
ROSTOCK
Biomarker for Hurler disease (BioHurler): An International, multicentre, epidemiological protocol
Centogene AG
DUITSLAND
Niedersachsen
GÖTTINGEN
Elucidating the pathogenesis of Kabuki syndrome and a possible molecular genetic link between the two malformation syndromes CHARGE and Kabuki
Institut für Humangenetik der Universität Göttingen
Institut für Humangenetik
DUITSLAND
Niedersachsen
GÖTTINGEN
A long-read genome sequencing approach to identify novel genes associated with accelerated aging phenotypes
Institut für Humangenetik der Universität Göttingen
Institut für Humangenetik
DUITSLAND
Niedersachsen
HANNOVER
PREDACTING: Predicting the clinical outcome of non-muscle actinopathies- DE
Medizinische Hochschule Hannover
Institut für Biophysikalische Chemie
DUITSLAND
Nordrhein-Westfalen
AACHEN
TREAT-SGS: Development and preclinical testing in human cell models and transgenic mice of a novel treatment for Schinzel-Giedion Syndrome -DE
Rheinisch-Westfälische Technische Hochschule Aachen
Joint Research Center for Computational Biomedicine
DUITSLAND
Nordrhein-Westfalen
DÜSSELDORF
ADDRess: Translational research for patients with abnormal DNA Damage Response
Universitätsklinikum Düsseldorf
Institut für Pathologie
DUITSLAND
Saarland
HOMBURG
PHYSPATH-KS: Understanding the pathophysiology of Keutel Syndrome: A path towards cure -DE
Universitätsklinikum des Saarlandes
Institut für Experimentelle Orthopädie und Arthroseforschung
DUITSLAND
Sachsen
DRESDEN
PREDACTING: Predicting the clinical outcome of non-muscle actinopathies- DE
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Institut für Klinische Genetik
FINLAND
Finland
HELSINKI
RAPADILINO syndrome: clinical and genetic study
Terveyden ja hyvinvoinnin laitos (THL)
Finnish Institute for Health and Welfare (THL)
FINLAND
Finland
HELSINKI
The genetic basis of the development and malformations of teeth and craniofacial tissues
University of Helsinki
Institute of Dentistry
FINLAND
Finland
HELSINKI
FinnDisMice- Mouse Models for Finnish Disease Heritage
University of Helsinki
FRANKRIJK
AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
Dissecting the mechanisms by which distinct muscle cell types arise in posterior cardiopharyngeal mesoderm.
Institution: Information not provided - FR
FRANKRIJK
AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
Participatory process to understand and improve augmentative and alternative communication of people with a rare neurogenetic disorders
Institution: Information not provided - FR
FRANKRIJK
AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
Food practices socialization of children with Prader-Willi syndrom
Institution: Information not provided - FR
FRANKRIJK
AUVERGNE-RHONE-ALPES
BRON
Genetic and molecular study in patient affected by Wolcott-Rallison syndrome or other neonatal diabetes
CHU de Lyon HCL - GH Est-Hôpital Femme Mère Enfant
Service d'endocrinologie et de diabétologie pédiatriques et maladies héréditaires du métabolisme
FRANKRIJK
AUVERGNE-RHONE-ALPES
LYON
Role of minor splicing in brain development
CHU de Lyon HCL - GH Nord-Hôpital de la Croix Rousse
Service de neurogénétique
FRANKRIJK
AUVERGNE-RHONE-ALPES
PRAGUE
Mechanisms underlying neural phenotypes of cholesterol synthesis disorders
Faculty of Medicine and University Hospital Motol
Department of Pediatrics
FRANKRIJK
BOURGOGNE-FRANCHE-COMTE
DIJON
Noninvasive prenatal aneuploidy testing by targeted massively parallel sequencing of maternal plasma
CHU de Dijon - Plateau technique de Biologie
Laboratoire de génétique chromosomique et moléculaire
FRANKRIJK
GRAND-EST
ILLKIRCH-GRAFFENSTADEN
RAinRARE: Integrated analyses of retinoic acid signaling to understand and treat rare form of progressive motor impairment - FR (Parner 1)
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Biologie du développement et cellules souches
FRANKRIJK
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
FRANKRIJK
GRAND-EST
ILLKIRCH-GRAFFENSTADEN
Study of the regulation of diacylglycerol kinase activity by FMRP and its deregulation in Fragile X syndrome disease
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Médecine translationnelle et neurogénétique
FRANKRIJK
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
FRANKRIJK
GRAND-EST
STRASBOURG
Bardet-Biedl syndrome: new genes identification and biological characterization of a new gene BBS10
Faculté de médecine de Strasbourg - Louis Pasteur
Laboratoire de génétique médicale - Unité Inserm U1112
FRANKRIJK
GRAND-EST
STRASBOURG
RAinRARE: Integrated analyses of retinoic acid signaling to understand and treat rare form of progressive motor impairment - FR (Partner 2)
Faculté de médecine de Strasbourg - Louis Pasteur
iCube CSTB
FRANKRIJK
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)
FRANKRIJK
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
FRANKRIJK
ILE-DE-FRANCE
PARIS
Microcephaly, Fanconi Anemia and Praxial Disorders (MicroFancII)
CHU Paris - Hôpital Robert Debré
UF de Génétique clinique
FRANKRIJK
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)
FRANKRIJK
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
FRANKRIJK
ILE-DE-FRANCE
PARIS
Constitutive hematologic diseases: clinical and therapeutic research, molecular biology
GHU AP-HP Nord. Université de Paris - Hôpital Saint-Louis
Service d'hématologie pédiatrique
FRANKRIJK
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"
FRANKRIJK
ILE-DE-FRANCE
PARIS
Defects in mitochondria and proteases in the cells of Cockayne's progeroid syndrome and during processes associated with aging.
Institut Pasteur
Cellules souches et Développement - CNRS UMR3738
FRANKRIJK
ILE-DE-FRANCE
PARIS
Regulatory networks governing the diversity of craniofacial muscles
Institut Pasteur
FRANKRIJK
ILE-DE-FRANCE
PARIS
Genetic and molecular study in patient affected by Wolcott-Rallison syndrome or other neonatal diabetes
U.F.R. de Médecine Paris Diderot - Paris 7 - Site Villemin
INSERM UMR_S958 "Génétique des Diabètes"
FRANKRIJK
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
FRANKRIJK
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
FRANKRIJK
NOUVELLE AQUITAINE
BORDEAUX
Research for one gene involved in Goldenhar syndrome
CHU de Bordeaux-GH Pellegrin
Laboratoire Maladies Rares : Génétique et Métabolisme (MRGM)
FRANKRIJK
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)
FRANKRIJK
OCCITANIE
MONTPELLIER
Exploiting epigenome editing in Kabuki syndrome: a new route towards gene therapy for rare genetic disorders
CHU de Montpellier - Hôpital Arnaud de Villeneuve
Equipe Maladies Génétiques de l'Enfant et de l'Adulte
FRANKRIJK
OCCITANIE
MONTPELLIER
IMPACT: Identification of converging Molecular Pathways Across Chromatinopathies as Targets for Therapy - FR
Institut de Génétique Humaine (IGH)
Chromatin and cell biology
FRANKRIJK
PAYS DE LA LOIRE
NANTES
Genotype-phenotype correlation and penetrance study of the FXTAS: premutation carriers
CHU de Nantes - Hôpital Nord Guillaume et René Laënnec
Centre d'investigation clinique neuro-psycho-pharmacologie
FRANKRIJK
PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
HETER-OMICS: Multi-OMICS interrogation of cerebral cortical malformations - FR
Institut de neurobiologie de la méditerranée (INMED)
Bases moléculaires et physiopathologie des malformations du cortex cérébral
FRANKRIJK
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
FRANKRIJK
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
FRANKRIJK
PROVENCE-ALPES-COTE D'AZUR
NICE
Study of SYK signaling in chronic inflammatory diseases
Centre Méditerranéen de Médecine Moléculaire
FRANKRIJK
PROVENCE-ALPES-COTE D'AZUR
VALBONNE
Pathophysiology of mental retardation: Fragile X syndrome and mental retardation associated with the FRAXE site on Xq28
IPMC - Institut de Pharmacologie Moléculaire et Cellulaire
Institut de Pharmacologie Moléculaire et Cellulaire - IPMC UMR7275
FRANKRIJK
PROVENCE-ALPES-COTE D'AZUR
VALBONNE
New therapeutic targets in Fragile X Syndrome
IPMC - Institut de Pharmacologie Moléculaire et Cellulaire
Institut de Pharmacologie Moléculaire et Cellulaire - IPMC UMR7275
FRANKRIJK
PROVENCE-ALPES-COTE D'AZUR
VALBONNE
Explore innovative strategies to restore synaptic function and sociocognitive behaviors in a mouse model expressing a recurrent mutation in Fragile X syndrome in humans
IPMC - Institut de Pharmacologie Moléculaire et Cellulaire
Equipe "Implication physiologique et physiopathologique de la sumoylation neuronale"
HONGARIJE
Közép-Magyarország
BUDAPEST
PREDACTING: Predicting the clinical outcome of non-muscle actinopathies - HU
Semmelweis University
Department of Biophysics and Radiation Biology
IERLAND
County Dublin
DUBLIN
Conformational triggers, Mechanisms and Pathways for Neurodegenerative Disease
Trinity College Dublin
Institute of Neuroscience
ITALIË
CAMPANIA
NAPOLI
Analysis of KDM5C mutations detected in patients with ASD and ID
Istituto di Genetica e Biofisica "Adriano Buzzati Traverso" - CNR
Human Molecular Neurogenetics Laboratoty
ITALIË
FRIULI VENEZIA GIULIA
TRIESTE
miRNA in Prader-Willi syndrome
Area Scienze Park - Campus di Basovizza
Centro Studi Fegato
ITALIË
LAZIO
FIUMICINO
Prader-Willi syndrome: genetic, metabolic and endocrine functional neuroanatomy
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE PALIDORO
U.O. di Endocrinologia
ITALIË
LAZIO
ROMA
Deletion of KDM6A a histone demethylase interacting with MLL2 in Three patients with Kabuki Syndrome
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
Servizio Clinico di Consulenza Genetica
ITALIË
LAZIO
ROMA
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
Servizio Clinico di Consulenza Genetica
ITALIË
LAZIO
ROMA
Association of DiGeorge anomaly and caudal dysplasia sequence in a neonate born to a diabetic mother
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
Servizio Clinico di Consulenza Genetica
ITALIË
LAZIO
ROMA
Deficiency for the ubiquitin ligase UBE3B in blepharophimosis-ptosis-intellectual-disability Syndrome
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
Servizio Clinico di Consulenza Genetica
ITALIË
LAZIO
ROMA
Study of the pathogenesis of autoimmune phenomena in primary immunodeficiencies
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
U.O. di Immunoinfettivologia Pediatrica
ITALIË
LAZIO
ROMA
Deletion of KDM6A a histone demethylase interacting with MLL2 in Three patients with Kabuki Syndrome
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
UOS Genetica Medica
ITALIË
LAZIO
ROMA
Clinical and molecular characterization of genetic syndromes with congenital heart disease
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
U.O.C. Laboratorio di Genetica Medica
ITALIË
LAZIO
ROMA
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
A.R. Genetica e Malattie Rare
ITALIË
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
ITALIË
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
ITALIË
LAZIO
ROMA
RegistRare: the new National Platform dedicated to Rare Diseases Registries
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
ITALIË
LAZIO
ROMA
Improving quality standards in Italian laboratories performing genetic testing for rare diseases
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
ITALIË
LAZIO
ROMA
A Drosophila model for Nijmegen breakage Syndrome and related genetic disorders
Sapienza Università di Roma
Dipartimento di Genetica e Biologia Molecolare
ITALIË
LIGURIA
GENOVA
Targeting aberrant Cl- homeostasis and GABAergic transmission in Down syndrome to design innovative therapeutic approaches
Istituto Italiano di Tecnologia
Dipartimento di Neuroscience e Tecnologie del Cervello
ITALIË
LOMBARDIA
CUSANO MILANINO
Advanced biotechnologies for diagnosis of rare genetic diseases with multiple pathogenetic mechanisms
Istituto Auxologico Italiano
Laboratorio di Biologia Molecolare
ITALIË
LOMBARDIA
MILANO
Neuronal dysfunctions underlying Phelan-McDermid syndrome and theirs rescue by genetic and pharmacological modulation of mGlu5 signaling
Consiglio Nazionale delle Ricerche
Istituto di Neuroscienze
ITALIË
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)
ITALIË
LOMBARDIA
MILANO
Mechanistic dissection of Polycomb-dependent dysregulation in Weaver syndrome neural lineages
IRCCS Istituto Europeo di Oncologia
ITALIË
LOMBARDIA
MILANO
Joubert syndrome and other genetic cerebellar malformations. In vivo analysis in animal models
IRCCS Ospedale San Raffaele
U.O. di Genetica dello Sviluppo Neurale
ITALIË
LOMBARDIA
MILANO
TREAT-SGS: Development and preclinical testing in human cell models and transgenic mice of a novel treatment for Schinzel-Giedion Syndrome - IT
IRCCS Ospedale San Raffaele
Divisione di Neuroscienze
ITALIË
LOMBARDIA
MILANO
TREAT-SGS: Development and preclinical testing in human cell models and transgenic mice of a novel treatment for Schinzel-Giedion Syndrome - IT
Università degli Studi di Milano Bicocca
Uiniversità degli Studi di Milano Bicocca
ITALIË
LOMBARDIA
ROZZANO
Functional dissection of the molecular underpinnings of 7q11.23 syndromes: bridging pathogenic insight to drug discovery at single cell resolution
IRCCS Istituto Clinico Humanitas
Istituto Clinico Humanitas
ITALIË
PUGLIA
BARI
Genetic and metabolic regulation of the cell redox state in down syndrome:role of the ubiquitin-proteasome system, of mitochondrial metabolism, of mi RNAs, and protective effect of natural anti-oxidant compounds
Consiglio Nazionale delle Ricerche
Istituto di Biomembrane e Bioenergetica
ITALIË
TOSCANA
SESTO FIORENTINO (FIRENZE)
PREDACTING: Predicting the clinical outcome of non-muscle actinopathies - IT
Università degli Studi di Firenze
Dipartimento di Biologia
ITALIË
VENETO
PADOVA
Intracellular chloride dynamics in autistic brain: a better understanding is needed for tailored cures
CNR - Istituto di Neuroscienze
Istituto di Neuroscienze
JAPAN
JAPAN
KYOTO
Development of novel therapeutics for Fibrodysplasia Ossficancs Progressiva
Institute for Frontier Life and Medical Sciences, Kyoto University
NEDERLAND
Gelderland
NIJMEGEN
TREATCilia: Novel Therapeutic Avenues for dynein-related Ciliopathies
Radboudumc - Radboud universitair medisch centrum
Afdeling Genetica
NEDERLAND
Noord-Holland
AMSTERDAM
Etiologie van Cornelia de Lange Syndroom
Amsterdam UMC, locatie AMC
Kinderpolikliniek Klinische Genetica
NEDERLAND
Noord-Holland
AMSTERDAM
Etiologie van Rubinstein-Taybi Syndroom
Amsterdam UMC, locatie AMC
Kinderpolikliniek Klinische Genetica
NEDERLAND
Noord-Holland
AMSTERDAM
Etiologie van Nicolaides-Baraitser Syndroom
Amsterdam UMC, locatie AMC
Kinderpolikliniek Klinische Genetica
NEDERLAND
Noord-Holland
AMSTERDAM
Versterkte litteken vorming in Rubinstein-Taybi Syndroom
Amsterdam UMC, locatie AMC
Kinderpolikliniek Klinische Genetica
NEDERLAND
Noord-Holland
AMSTERDAM
Etiologie van Cornelia de Lange Syndroom
Amsterdam UMC, locatie AMC
Polikliniek Algemene Kindergeneeskunde
NEDERLAND
Noord-Holland
AMSTERDAM
Etiologie van Rubinstein-Taybi Syndroom
Amsterdam UMC, locatie AMC
Polikliniek Algemene Kindergeneeskunde
NEDERLAND
Noord-Holland
AMSTERDAM
Etiologie van Nicolaides-Baraitser Syndroom
Amsterdam UMC, locatie AMC
Polikliniek Algemene Kindergeneeskunde
NOORWEGEN
Østlandet
SIGGERUD
School Staff's Experiences and coping Related to the Challenging Behaviour of Children with Smith-Magenis Syndrome in Schools: A Q Methodological Study
Frambu kompetansesenter for sjeldne diagnoser
OOSTENRIJK
NIEDERÖSTERREICH
KLOSTERNEUBURG
IMPACT: Identification of converging Molecular Pathways Across Chromatinopathies as Targets for Therapy - AT
IST Austria
Institute of Science and Technology Austria
OOSTENRIJK
WIEN
ADDRESS: NOT PROVIDED - AT
Neuro-MIG: European Network on Brain Malformations - AT
Institution: Information not provided - AT
OOSTENRIJK
WIEN
WIEN
RIBOEUROPE: The European Ribosomopathy Consortium - AT
AKH BT 25.3
Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases
OOSTENRIJK
WIEN
WIEN
Pharmacological rescue of creatine transporter-1 variants
Medizinische Universität Wien
Zentrum für Physiologie und Pharmakologie
SPANJE
Andalucía
MÁLAGA
Systems medicine approaches for the identification of new therapeutic targets in rare genetic diseases
Universidad de Málaga. Facultad de Ciencias
Departamento de Biología Molecular y Bioquímica
SPANJE
Aragón
ZARAGOZA
Redefining the Cornelia de Lange Spectrum by the integration of new clinical, genomic, transcriptomic and metabolic data
Universidad de Zaragoza. Facultad de Medicina
Laboratorio de Genética Clínica y Genómica Funcional
SPANJE
Cataluña
BARCELONA
Detection of structural genetic factors modifying the phenotype in a population with congenital defects
Vall d'Hebron Institut de Recerca VHIR
Vall d'Hebron Institut de Recerca
SPANJE
Cataluña
ESPLUGUES DE LLOBREGAT
The gut microbiome as a therapeutic target in Prader-Willi syndrome: effects on metabolic health and social behavior
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu
SPANJE
Comunidad Valenciana
SANT JOAN D'ALACANT
Neuronal Spurious Transcription And Enhanceropathy In The Etiology Of Intellectual Disability
Instituto de Neurociencias de Alicante (CSIC-UMH)
Regulación transcripcional de la plasticidad neural
SPANJE
Comunidad Valenciana
SANT JOAN D'ALACANT
Molecular mechanisms underlying Zic2-associated holoprosencephaly
Instituto de Neurociencias de Alicante (CSIC-UMH)
Unidad de Neurobiología del Desarrollo
SPANJE
Comunidad Valenciana
VALENCIA
Linking cellular defects with clinical manifestations in Cohen syndrome
Centro de Investigación Príncipe Felipe (CIPF)
Banco de Líneas Celulares
SPANJE
Comunidad Valenciana
VALENCIA
Transcriptomic and secretomic profiles after extended culture of human euploid and chromosome 21 aneuploid embryos
Hospital Universitario y Politécnico La Fe
Fundación para la Investigación del Hospital Universitari La Fe
SPANJE
Galicia
VIGO
Molecular mechanisms in ciliopathies
Universidade de Vigo
Grupo de Enfermedades raras
SPANJE
Madrid
MADRID
Effects of the non-peptide agonist of the thrombopoietin receptor (Eltrombopag) in the hematopoiesis of patients with Fanconi anemia
Hospital Infantil Universitario Niño Jesús
Servicio de Hematología y Hemoterapia
SPANJE
Madrid
MADRID
FANEDIT: Gene editing as a novel therapeutic strategy in Fanconi anemia - ES
Hospital Infantil Universitario Niño Jesús
Servicio de Hematología y Hemoterapia
SPANJE
Madrid
MADRID
Identification of new genes causing rare diseases in pediatric patients, searching of genetic pharmacological targets, and drugs discovery, the steps for a personalized medicine
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en enfermedades raras, mitocondriales y neuromusculares
USA
Washington
ADDRESS: NOT PROVIDED - US
Systematic whole genome analyses of the cardiopharyngeal gene regulatory network in a simple chordate.
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Functional characterization of a causative gene for intellectual disability
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Therapeutics for rare and neglected diseases - science
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Development of bone morphogenetic protein inhibitors to treat blood and bone disorders
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
A drug-screening platform for autism spectrum disorders using human neurons and astrocytes
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Use of rapamycin for the treatment of hypertrophic cardiomyopathy in patients with leopard syndrome
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Lum-001 as a treatment for creatine transporter deficiency
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Bmp inhibitors to treat fibrodysplasia ossificans progressiva
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Long-acting parathyroid hormone analog for the treatment of hypoparathyroidism
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Drug repurposing screening for rare and neglected diseases
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Cell biology of metabolic disorders
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Clinical and molecular studies of malformations
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Fanconi anemia:genotype-phenotype correlations
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Genetic epidemiology of complex diseases
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Genetics of brain development
Institution: Information not provided - US
USA
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
USA
Washington
ADDRESS: NOT PROVIDED - US
Cilium-associated structures in rod cells
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Function of c8orf37 in photoreceptors
Institution: Information not provided - US
USA
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
USA
Washington
ADDRESS: NOT PROVIDED - US
Mechanisms of retinal degeneration in inherited diseases
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
National ophthalmic disease genotyping and phenotyping network - eyegene
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Neuro-ophthalmic mechanisms of disease
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Innate immune regulation of stem cells in bone formation
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Accessory membrane and intracellular mediators in bone cell mechanotransduction
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Intersection of upregulated bmp signaling & cellular mechanotransduction in fibrodysplasia ossificans progressiva (fop)
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Using a disease-affected cell to synthesize its own drug
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Mechanisms regulating neural progenitor expansion in the developing brain
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Prdm16 function in neural development
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Circadian and sleep programming in angelman syndrome mouse models
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Mechanisms of fmrp mediated translational repression
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Neural coordination and discoordination in fmr1 null mice
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Zfp423 mechanisms in joubert syndrome and related disorders
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
The role of arl13b in transcription-independent sonic hedgehog regulation of axon guidance
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Fmr1 premutation phenotypes in population-based & clinically-ascertained samples
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Project III: a drosophila model for cornelia de lange syndrome
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Impact of cognition on balance and gait markers for fxtas
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Loss and rescue of endocannabinoid-dependent ltp and memory in fragile-x model mice
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Memory measures for clinical trials in down syndrome and fragile x syndrome
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
The effects of parenting on the development and behavior of adolescents with fxs
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Cardiac interaction networks as determinants of transcriptional specificity
Institution: Information not provided - US
USA
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
USA
Washington
ADDRESS: NOT PROVIDED - US
Epigenetic therapy and prader-willi syndrome
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Fa ddr pathway in germline integrity
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Function of slack potassium channels in early onset epilepsy and intellectual disabilities
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Oxysterols in slos neurodevelopment: pathological role and therapy
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
A zebrafish model of phenotypic variation associated with fraser syndrome
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Clinical investigations of smith-lemli-opitz syndrome
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Genetic architecture and molecular pathogenesis of joubert syndrome
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Genes for non-syndromic congenital heart disease
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Impact of cgg repeats on fmr1 gene function and human health
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Genetic modifiers of congenital heart disease
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
In vivo lentiviral gene therapy for hurler syndrome
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Inborn errors of cholesterol synthesis
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Mammalian developmental genetics and stem cells
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Mechanisms of neocortical and sensory hyperexcitability in fragile x syndrome
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Molecular and synaptic mechanisms of auditory circuit dysfunction in fxs mice
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Mouse functional analysis of genes for congenital heart disease
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Neuroendocrine regulation of metabolism and neurocognition
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Physiology; psychology; and genetics of obesity
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Potassium channels and dendritic function in hippocampal pyramidal neurons
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Project 1: gene networks for social cognition in williams syndrome
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Project 2: modeling williams syndrome using human neurons
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Project 3: cellular architectonics and local circuits
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Project 4: neuroimaging of social circuitry
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Project 5: characterization of social phenotype
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Project I: molecular etiology of structural birth defects in cdls
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Project: genetic basis of intellectual disability in 22q11.2 deletion syndrome
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Rescuing fragile x syndrome by targeting p70 s6 kinase 1
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Rescuing the fragile x syndrome by cpeb depletion
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Steps towards a paternal gene activation therapy for angelman syndrome
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Strategies to rescue pi3k dysregulation in fragile x syndrome
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Nipbl, cohesin and related structural birth defects
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Project 1: genetic mechanisms for conotruncal heart malformations
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Molecular etiology of structural birth defects in cdls
Institution: Information not provided - US
VERENIGD KONINKRIJK
West Midlands
BIRMINGHAM
EURO-WABB: EURO-Rare Diabetes Project (coordination)
Birmingham Children's Hospital NHS Foundation Trust
Diabetes Unit
ZWEDEN
Region Stockholm
HUDDINGE
Oxysterols in health and disease
Karolinska Institutet - Huddinge
Division of Clinical Chemistry
ZWEDEN
Region Stockholm
STOCKHOLM
Molecular and functional studies of Scc2 and Scc4 in DNA repair, Gene regulation and Genome integrity in Cornelia de Lange syndrome
Karolinska Institutet - Solna
Department of Cell and Molecular Biology (CMB)
ZWEDEN
Region Stockholm
STOCKHOLM
Understanding Genetic Mechanisms in Disorders and Development of Diagostic Methods
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery (MMK)
ZWEDEN
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
University of Gothenburg
Department of Chemistry & Molecular Biology
ZWITSERLAND
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
ZWITSERLAND
Suisse Alémanique
BASEL
Pharmacological strategies to rescue RyR1 expression in congenital myopathies
Universitätsspital Basel
Department of Biomedicine
ZWITSERLAND
Suisse Alémanique
ZURICH
FANEDIT: Gene editing as a novel therapeutic strategy in Fanconi anemia - CH
ETH Zurich - Hönggerberg campus
Institute of Molecular Health Sciences
ZWITSERLAND
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
ZWITSERLAND
Suisse Romande
GENÈVE
The Swiss 22q11DS longitudinal cohort: understanding psychosis proneness through negative symptoms
UNIGE Université de Genève
Service Médico-Pédagogique Département de Psychiatrie
FRANKRIJK
AUVERGNE-RHONE-ALPES
VILLEURBANNE
A transcriptomic study in zebrafish models of RNU4ATAC-associated rare diseases: connecting U12 splicing defects to developmental abnormalities
Université Claude Bernard Lyon 1
Centre de Recherche en Neurosciences de Lyon (CNRL), INSERM U1028, CNRS UMR 5292
ITALIË
CAMPANIA
NAPOLI
Analysis of ARX mutations in patients with neurodevelopmental diseases (NDDs)
Istituto di Genetica e Biofisica "Adriano Buzzati Traverso" - CNR
Human Molecular Neurogenetics Laboratoty
NEDERLAND
Zuid-Holland
ROTTERDAM
The role of nuclear UBE3A in the pathophysiology of Angelman Syndrome
Erasmus MC - Erasmus Medisch Centrum
Afdeling Neurowetenschappen
SPANJE
Comunidad Valenciana
VALENCIA
Characterization of macromolecular targets as a key to understanding, diagnosis and design of therapies in rare diseases
Instituto de Biomedicina de Valencia (CSIC)
Unidad de Enzimopatología Estructural
USA
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
USA
South Dakota
SIOUX FALLS
Cellular and molecular mechanisms by which aberrant Notch signaling causes cystic kidney disease
Sanford Research
Surendran Lab
VERENIGD KONINKRIJK
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
VERENIGD KONINKRIJK
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
CANADA
Ontario
TORONTO
Improving treatment for GRIN disorders
University of Toronto
Department of Pharmacology & Toxicology
DUITSLAND
Sachsen
DRESDEN
Non-muscular actinopathies: Baraitser-Winter Cerebrofrontofacial syndrome and related disorders
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Institut für Klinische Genetik
FRANKRIJK
ILE-DE-FRANCE
GARCHES
Laminar sub-cortical heterotopies and lissencephalies: radio-clinical correlations and mutations in the double cortin gene
CHU Paris IdF Ouest - Hôpital Raymond Poincaré
Unité : Neurologie Pédiatrique
SPANJE
Cataluña
L'HOSPITALET DE LLOBREGAT
Comprehensive delineation and personalized medicine of GRIN-related neurodevelopmental disorders, a rare paediatric encephalopathy
IDIBELL - Instituto de Investigación Biomédica de Bellvitge
Grupo de Neurofarmacología y Dolor
USA
Washington
ADDRESS: NOT PROVIDED - US
The role of dystroglycan in neural circuit development.
Institution: Information not provided - US
USA
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
Multicentrische onderzoeksprojecten
- 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
- Institut für Humangenetik der Universität Göttingen
- Institut für Humangenetik
- Universitätsklinikum Aachen
- Institut für Humangenetik
- Universitätsklinikum Essen
- 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
- Universitätsklinikum Magdeburg A.ö.R
- MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
- CHU Paris - Hôpital Robert Debré
- UF de Génétique clinique
- IFM - Institut du Fer à Moulin
- Equipe " Développement cortical et pathologie "
- 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
- Radboudumc - Radboud universitair medisch centrum
- Afdeling Genetica
- Radboudumc - Radboud universitair medisch centrum
- Afdeling Genetica
- LUMC - Leids Universitair Medisch Centrum
- Afdeling Cel en Chemische Biologie
- Centro de Regulación Genómica
- Hospital Universitario Fundación Jiménez Díaz
- Developmental Psychiatry - University of Cambridge
- Learning Disabilities Research Group
- Department of Health
- UCL Institute for Women's Health
- UCLH Women's Health Division
- Centre Hospitalier Universitaire Vaudois CHUV
- Service de recherche en oncologie
CANADA
Québec
MONTREAL,
PHYSPATH-KS: Understanding the pathophysiology of Keutel Syndrome: A path towards cure
CANADA
Québec
MONTRÉAL
CoHEART : Improving care for Cohesinopathies, from heart phenotypes to novel therapies
CANADA
Québec
MONTRÉAL
RAinRARE: Integrated analyses of retinoic acid signaling to understand and treat rare form of progressive motor impairment
CANADA
Québec
MONTRÉAL
TREAT-SGS: Development and preclinical testing in human cell models and transgenic mice of a novel treatment for Schinzel-Giedion Syndrome
DUITSLAND
Niedersachsen
GÖTTINGEN
CRANIRARE: An integrated clinical and scientific approach for craniofacial malformations
DUITSLAND
Nordrhein-Westfalen
AACHEN
EUCID.net: European Congenital Imprinting Disorders Network
DUITSLAND
Nordrhein-Westfalen
ESSEN
TARGET-CdLS: Targeting unknowns in causes and phenotypes of the Cornelia de Lange Syndrome
DUITSLAND
Nordrhein-Westfalen
KÖLN
TC NER: Transcription stress Counteracted by Nutritional interventions of Exceptional importance for rare DNA Repair diseases
DUITSLAND
Sachsen
DRESDEN
PREDACTING: Predicting the clinical outcome of non-muscle actinopathies
DUITSLAND
Sachsen-Anhalt
MAGDEBURG
International Clearinghouse for Birth Defects Monitoring Systems
FRANKRIJK
ILE-DE-FRANCE
PARIS
EUROMICRO: Primary monogenic microcephalies : from genetics to pathophysiology and the clinic
FRANKRIJK
ILE-DE-FRANCE
PARIS
HETER-OMICS: Multi-OMICS interrogation of cerebral cortical malformations
ITALIË
CAMPANIA
NAPOLI
EUCILIA: Pathophysiology of rare diseases due to ciliary dysfunction: nephronophthisis, oral-facial-digital type 1 and bardet-biedl syndromes
ITALIË
CAMPANIA
NAPOLI
22q11.2 deletion syndrome: Novel approaches to understand cardiopharyngeal pathogenesis
ITALIË
LOMBARDIA
MILANO
DISEASEAVATARS: Modeling Disease through Cell Reprogramming: a Translational Approach to the Pathogenesis of Syndromes Caused by Symmetrical Gene Dosage Imbalances
ITALIË
LOMBARDIA
PAVIA
GIMS: Interdisciplinary Team for Marfan Syndrome
ITALIË
TOSCANA
FIRENZE
DESIRE: Development and Epilepsy - Strategies for innovative research to improve diagnosis, prevention and treatment in children with difficult to treat epilepsy
NEDERLAND
Gelderland
NIJMEGEN
EURO-MRX: European mental retardation consortium
NEDERLAND
Gelderland
NIJMEGEN
IMPACT: Identification of converging Molecular Pathways Across Chromatinopathies as Targets for Therapy
NEDERLAND
Zuid-Holland
LEIDEN
Normalization of the vasculature to prevent heterotopic ossification in Fibrodysplasia ossificans progressiva
SPANJE
Cataluña
BARCELONA
CUREFXS: targeting Rho-signalling, a new therapeutic avenue in fragile-X syndrome
SPANJE
Madrid
MADRID
FANEDIT: Gene editing as a novel therapeutic strategy in Fanconi anemia
VERENIGD KONINKRIJK
Cambridgeshire
CAMBRIDGE
PWS: Prader-Willi Syndrome: a model linking gene expression, obesity and mental health
VERENIGD KONINKRIJK
Greater London
LONDON
RASopathy network: disorders of the Ras-MAPK pathway
VERENIGD KONINKRIJK
Greater London
LONDON
EuroPSI - European Network for Psychosocial Studies in Intersex / Diverse Sex Development
ZWITSERLAND
Suisse Romande
LAUSANNE