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Projetos de investigação
ALEMANHA
Baden-Württemberg
TÜBINGEN
ESPED-study: Omphaloceles and Associated Malformations in Preterm and Term Newborns
Universitätsklinik für Kinder- und Jugendmedizin Tübingen
Abteilung für Neonatologie
ALEMANHA
Baden-Württemberg
ULM
GeNeRARe: German Network for RASopathies
Institute of Comparative Molecular Endocrinology der Universität Ulm
Cirstea Lab
ALEMANHA
Bayern
NEUHERBERG
Understanding the molecular and cellular pathways in PURA Syndrome
Helmholtz Zentrum München
Institut für Strukturbiologie - AG Niessing
ALEMANHA
Hamburg
HAMBURG
GeNeRARe: German Network for RASopathies
UKE - Universitätsklinikum Hamburg-Eppendorf
Institut für Humangenetik
ALEMANHA
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
ALEMANHA
Niedersachsen
GÖTTINGEN
GeNeRARe: German Network for RASopathies
Universitätsmedizin Göttingen
Klinik für Thorax-, Herz- und Gefäßchirurgie
ALEMANHA
Nordrhein-Westfalen
DÜSSELDORF
GeNeRARe: German Network for RASopathies
Heinrich-Heine-Universität Düsseldorf
Institut für Biochemie und Molekularbiologie II
ALEMANHA
Saarland
HOMBURG
Visual impairment and blindness in multiple-handicapped children
Universitätsklinikum des Saarlandes
AG Kinder- & Neuroophthalmologie
ALEMANHA
Sachsen
DRESDEN
Non-muscular actinopathies: Baraitser-Winter Cerebrofrontofacial syndrome and related disorders
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Institut für Klinische Genetik
ALEMANHA
Sachsen-Anhalt
MAGDEBURG
GeNeRARe: German Network for RASopathies
Otto-von-Guericke-Universität Magdeburg
Abteilung Genetik & Molekulare Neurobiologie
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
Pharmacological rescue of creatine transporter-1 variants
Medizinische Universität Wien
Zentrum für Physiologie und Pharmakologie
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
Ontario
TORONTO
iPS cells to model vascular disease in patients with Williams Beuren syndrome
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
SHERBROOKE
Clinical exome sequencing for molecular diagnosis of polymalformative syndromes
CIUSSS de l'Estrie - CHUS Fleurimont
Service de génétique médicale
ESPANHA
Andalucía
SEVILLA
Mathematical models of disease mechanisms to reformulate drugs for rare diseases
Fundación Progreso y Salud
Área de bioinformática clínica
ESPANHA
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
ESPANHA
Cataluña
BARCELONA
Functional and identification studies of therapeutic strategies in intellectual disability: TRIM28, TRAF7 and MAGEL2
Universitat de Barcelona. Facultat de Biologia
Departamento de genética molecular humana
ESPANHA
Comunidad Valenciana
SANT JOAN D'ALACANT
Molecular mechanisms underlying Zic2-associated holoprosencephaly
Instituto de Neurociencias de Alicante (CSIC-UMH)
Unidad de Neurobiología del Desarrollo
ESPANHA
Madrid
MADRID
Deciphering the genetic complexity of congenital hypopituitarism
INGEMM - Instituto de Genética Médica y Molecular (IdiPAZ)
Sección de Endocrinología Molecular
ESPANHA
Madrid
MADRID
Genomic evaluation in Wolf-Hirschhorn syndrome; Customized SNPS microarrays and candidate genes: approach to dental disorders and complex epilepsy
INGEMM - Instituto de Genética Médica y Molecular (IdiPAZ)
Sección de Genómica Estructural y Funcional
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Functional characterization of a causative gene for intellectual disability
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Therapeutics for rare and neglected diseases - science
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
A drug-screening platform for autism spectrum disorders using human neurons and astrocytes
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Lum-001 as a treatment for creatine transporter deficiency
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Long-acting parathyroid hormone analog for the treatment of hypoparathyroidism
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Drug repurposing screening for rare and neglected diseases
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Cell biology of metabolic disorders
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Clinical and molecular studies of malformations
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Genetics of brain development
Institution: Information not provided - US
ESTADOS UNIDOS
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
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Neuro-ophthalmic mechanisms of disease
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Using a disease-affected cell to synthesize its own drug
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Prdm16 function in neural development
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Mechanisms of fmrp mediated translational repression
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Neural coordination and discoordination in fmr1 null mice
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Fmr1 premutation phenotypes in population-based & clinically-ascertained samples
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Project III: a drosophila model for cornelia de lange syndrome
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Impact of cognition on balance and gait markers for fxtas
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Loss and rescue of endocannabinoid-dependent ltp and memory in fragile-x model mice
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Memory measures for clinical trials in down syndrome and fragile x syndrome
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
The effects of parenting on the development and behavior of adolescents with fxs
Institution: Information not provided - US
ESTADOS UNIDOS
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
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Function of slack potassium channels in early onset epilepsy and intellectual disabilities
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Oxysterols in slos neurodevelopment: pathological role and therapy
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Clinical investigations of smith-lemli-opitz syndrome
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Impact of cgg repeats on fmr1 gene function and human health
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Inborn errors of cholesterol synthesis
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Mammalian developmental genetics and stem cells
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Mechanisms of neocortical and sensory hyperexcitability in fragile x syndrome
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Molecular and synaptic mechanisms of auditory circuit dysfunction in fxs mice
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Potassium channels and dendritic function in hippocampal pyramidal neurons
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Project 1: gene networks for social cognition in williams syndrome
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Project 2: modeling williams syndrome using human neurons
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Project 3: cellular architectonics and local circuits
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Project 4: neuroimaging of social circuitry
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Project 5: characterization of social phenotype
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Project I: molecular etiology of structural birth defects in cdls
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Rescuing fragile x syndrome by targeting p70 s6 kinase 1
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Rescuing the fragile x syndrome by cpeb depletion
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Strategies to rescue pi3k dysregulation in fragile x syndrome
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Nipbl, cohesin and related structural birth defects
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Molecular etiology of structural birth defects in cdls
Institution: Information not provided - US
FINLANDIA
Finland
HELSINKI
FinnDisMice- Mouse Models for Finnish Disease Heritage
University of Helsinki
FRANCA
AUVERGNE-RHONE-ALPES
PRAGUE
Mechanisms underlying neural phenotypes of cholesterol synthesis disorders
Faculty of Medicine and University Hospital Motol
Department of Pediatrics
FRANCA
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
FRANCA
ILE-DE-FRANCE
PARIS
Regulatory networks governing the diversity of craniofacial muscles
Institut Pasteur
FRANCA
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
FRANCA
NOUVELLE AQUITAINE
BORDEAUX
NanoPlanSYN : Role of the Planar Cell Polarity (PCP) signaling in the dynamic organization of synapses and the integration of synaptic information: from basic mechanisms to patho-physiological consequences
Neurocentre Magendie - Université de Bordeaux
Institut Neurocentre Magendie - U1215
FRANCA
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
FRANCA
OCCITANIE
MONTPELLIER
Non Invasive Prenatal Diagnosis on Isolated Circulating Fetal Trophoblastic Cells (CFTC) for Triplet Repeat Diseases
CHU de Montpellier - IURC
Laboratoire de Génétique Moléculaire
FRANCA
OCCITANIE
MONTPELLIER
IMPACT: Identification of converging Molecular Pathways Across Chromatinopathies as Targets for Therapy - FR
Institut de Génétique Humaine (IGH)
Chromatin and cell biology
FRANCA
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
FRANCA
PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
CaGeD : Cardiogenic Genome Dynamics
Faculté de Médecine de la Timone
Centre d'enseignement et de recherche en génétique médicale - INSERM UMR S910
FRANCA
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
IRLANDA
County Dublin
DUBLIN
Conformational triggers, Mechanisms and Pathways for Neurodegenerative Disease
Trinity College Dublin
Institute of Neuroscience
ITALIA
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
ITALIA
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
ITALIA
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
ITALIA
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
ITALIA
LAZIO
ROMA
Study of the pathogenesis of autoimmune phenomena in primary immunodeficiencies
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
U.O. di Immunoinfettivologia Pediatrica
ITALIA
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
ITALIA
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
ITALIA
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
ITALIA
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
ITALIA
LAZIO
ROMA
Improving quality standards in Italian laboratories performing genetic testing for rare diseases
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
ITALIA
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
ITALIA
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
JAPAO
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
JAPAO
JAPAN
MIYAGI
Pathogenesis and novel therapeutic approarches in RASoapthies
Tohoku University School of Medicine
Department of Medical Genetics
JAPAO
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
JAPAO
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
JAPAO
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
JAPAO
JAPAN
TOKYO
Exploration of basic pathogenesis of imprinting disorders
National Center for Child Health and Development
Department of Molecular Endocrinology
JAPAO
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
JAPAO
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
NORUEGA
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
PAISES BAIXOS
Noord-Holland
AMSTERDAM
Causes of Cornelia de Lange Syndrome
Amsterdam UMC, locatie AMC
Kinderpolikliniek Klinische Genetica
PAISES BAIXOS
Noord-Holland
AMSTERDAM
Causes of Rubinstein-Taybi Syndrome
Amsterdam UMC, locatie AMC
Kinderpolikliniek Klinische Genetica
PAISES BAIXOS
Noord-Holland
AMSTERDAM
Causes of Nicolaides-Baraitser Syndrome
Amsterdam UMC, locatie AMC
Kinderpolikliniek Klinische Genetica
PAISES BAIXOS
Noord-Holland
AMSTERDAM
Keloid formation in Rubinstein-Taybi Syndrome
Amsterdam UMC, locatie AMC
Kinderpolikliniek Klinische Genetica
PAISES BAIXOS
Noord-Holland
AMSTERDAM
Causes of Cornelia de Lange Syndrome
Amsterdam UMC, locatie AMC
Polikliniek Algemene Kindergeneeskunde
PAISES BAIXOS
Noord-Holland
AMSTERDAM
Causes of Rubinstein-Taybi Syndrome
Amsterdam UMC, locatie AMC
Polikliniek Algemene Kindergeneeskunde
PAISES BAIXOS
Noord-Holland
AMSTERDAM
Causes of Nicolaides-Baraitser Syndrome
Amsterdam UMC, locatie AMC
Polikliniek Algemene Kindergeneeskunde
REINO UNIDO
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
SUECIA
Region Stockholm
HUDDINGE
Oxysterols in health and disease
Karolinska Institutet - Huddinge
Division of Clinical Chemistry
SUECIA
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
SUECIA
Region Uppsala
UPPSALA
Down syndrome: clinical, epidemiological and molecular characterisation
Uppsala Universitet
Department of immunology, Genetics and Pathology, IGP
ALEMANHA
Sachsen-Anhalt
MAGDEBURG
EUROlinkCAT: Establishing a linked European Cohort of Children with Congenital Anomalies (partner DE)
Universitätsklinikum Magdeburg A.ö.R
MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
ESPANHA
Madrid
MADRID
Evaluation of the use of the fetal exome as a tool for identifying the genetic basis of major ultrasound abnormalities
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en genética y herencia
CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
ESPANHA
Madrid
MADRID
Bioinformatics developments based on network and systems biology to identify new candidate genes for rare genetic diseases
Fundación Jiménez Díaz
Área de Genética y Genómica
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US
FRANCA
ILE-DE-FRANCE
PARIS
STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196
FRANCA
PAYS DE LA LOIRE
NANTES
FROGH : FRench Regional Origins in Genetics for Health - FR
Institut de Recherche en Santé - Université de Nantes
L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291
JAPAO
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
JAPAO
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
JAPAO
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
Projetos de investigação multicêntricos
- Universitätsklinikum Aachen
- Institut für Humangenetik
- Universitätsklinikum Magdeburg A.ö.R
- MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
- Universitätsklinikum Schleswig-Holstein - Campus Lübeck
- Institut für Humangenetik
- CHU Sainte-Justine
- Département de pédiatrie
- Centro de Regulación Genómica
- 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
- 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
- Department of Health
- Centre Hospitalier Universitaire Vaudois CHUV
- Service de recherche en oncologie
- University of British Columbia
- Maternal Infant Child and Youth Research Network
- 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
ALEMANHA
Nordrhein-Westfalen
AACHEN
EUCID.net: European Congenital Imprinting Disorders Network
ALEMANHA
Sachsen-Anhalt
MAGDEBURG
International Clearinghouse for Birth Defects Monitoring Systems
ALEMANHA
Schleswig-Holstein
LÜBECK
TARGET-CdLS: Targeting unknowns in causes and phenotypes of the Cornelia de Lange Syndrome
CANADA
Québec
MONTRÉAL
CoHEART : Improving care for Cohesinopathies, from heart phenotypes to novel therapies
ESPANHA
Cataluña
BARCELONA
CUREFXS: targeting Rho-signalling, a new therapeutic avenue in fragile-X syndrome
FRANCA
AUVERGNE-RHONE-ALPES
LYON
Réseau sur les maladies de surcharge lysosomales
FRANCA
GRAND-EST
ILLKIRCH-GRAFFENSTADEN
Réseau d'étude des retards mentaux et déficits cognitifs monogéniques
FRANCA
ILE-DE-FRANCE
PARIS
EUROMICRO: Primary monogenic microcephalies : from genetics to pathophysiology and the clinic
FRANCA
ILE-DE-FRANCE
PARIS
Réseau national d'étude des déficits immunitaires primitifs avec hypogammaglobulinémie de l'adulte
ITALIA
LOMBARDIA
MILANO
DISEASEAVATARS: Modeling Disease through Cell Reprogramming: a Translational Approach to the Pathogenesis of Syndromes Caused by Symmetrical Gene Dosage Imbalances
ITALIA
LOMBARDIA
PAVIA
GIMS: Interdisciplinary Team for Marfan Syndrome
PAISES BAIXOS
Gelderland
NIJMEGEN
EURO-MRX: European mental retardation consortium
PAISES BAIXOS
Gelderland
NIJMEGEN
IMPACT: Identification of converging Molecular Pathways Across Chromatinopathies as Targets for Therapy
REINO UNIDO
Greater London
LONDON
RASopathy network: disorders of the Ras-MAPK pathway
SUICA
Suisse Romande
LAUSANNE
TheraLymph: Therapeutic approaches for treatment of hereditary lymphedema
CANADA
Colombie-Britannique
VANCOUVER
Maternal Infant Child and Youth Research Network (MICYRN)
FRANCA
ILE-DE-FRANCE
PARIS
STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy
FRANCA
PAYS DE LA LOIRE
NANTES