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41 Result(s)

Funded by an IRDiRC member =

    26 Research projects; 15 Multicentric Research projects

    Research projects

    • BELGIUM
    • OOST-VLAANDEREN
    • GENT
    • Personalized functional genomics in Mendelian diseases: from DNA variants to clinical and bioethical implications
    • Ghent University Hospital - UZGent
    • Center for Medical Genetics Ghent
    • More details
    • BELGIUM
    • OOST-VLAANDEREN
    • GENT
    • Belgian Medical Genomics Initiative (BeMGI)
    • Ghent University Hospital - UZGent
    • Center for Medical Genetics Ghent
    • More details
    • CANADA
    • Ontario
    • TORONTO
    • Funded by an IRDiRC member
    • Computerized Patient Phenotyping to Connect Canadian Clinical Genetics Clinics
    • University of Toronto
    • Department of Computer Science
    • More details
    • ESTONIA
    • Tartu
    • TARTU
    • Development of novel DNA diagnostic technologies for the detection of structural chromosomal abnormalities in case of mental retardation (EFT 5467).
    • University of Tartu
    • Institute of Molecular and Cell Biology
    • More details
    • FINLAND
    • Finland
    • HELSINKI
    • Molecular genetics of epilepsy syndromes
    • Folkhälsan
    • The Folkhälsan Institute of Genetics
    • More details
    • FRANCE
    • RHONE-ALPES
    • BRON
    • Funded by an IRDiRC member
    • ANI: Molecular characterization of apparently balanced chromosomal rearrangements by next-generation sequencing in 55 patients with intellectual disability and/or multiple congenital anomalies
    • CHU de Lyon HCL - GH Est
    • Laboratoire de cytogénétique constitutionnelle
    • More details
    • GERMANY
    • Baden-Württemberg
    • HEIDELBERG
    • Defects of cholesterol biosynthesis and intracellular cholesterol transport as a cause of holoprosencephaly
    • Zentrum für Kinder- und Jugendmedizin - Angelika-Lautenschläger-Klinik
    • Klinik für Kinderheilkunde I - Sektion für Angeborene Stoffwechselkrankheiten
    • More details
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • EPICURE: Functional genomics and neurobiology of epilepsy: a basis for new therapeutic strategies (coordination)
    • Hertie-Institut für klinische Hirnforschung (HIH)
    • Abteilung für Neurologie mit Schwerpunkt Epileptologie
    • More details
    • GERMANY
    • Berlin
    • BERLIN
    • Developmental Disturbances in the Nervous System (SFB 665): Molecular pathways in forebrain development and holoprosencephaly
    • Max-Delbrück-Centrum für Molekulare Medizin
    • Molekulare Herz- Kreislaufforschung
    • More details
    • ITALY
    • LAZIO
    • ROMA
    • The policy of public health genomics in Italy
    • IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
    • Servizio Clinico di Consulenza Genetica
    • More details
    • ITALY
    • LOMBARDIA
    • MILANO
    • Functional study of epileptogenic na+ channel mutations in transfected neurons and animal models
    • Fondazione IRCCS Istituto Neurologico "Carlo Besta"
    • Dipartimento di Neurofisiopatologia ed Epilettologia Diagnostica
    • More details
    • ITALY
    • LOMBARDIA
    • MILANO
    • Funded by an IRDiRC member
    • Study of improving Safety of Lentiviral Gene Transfer
    • IRCCS Ospedale San Raffaele
    • Centro di Genomica, Bioinformatica e Biostatistica - Unità di Genetica Umana e Molecolare
    • More details
    • ITALY
    • LOMBARDIA
    • MILANO
    • Funded by an IRDiRC member
    • Gene therapy strategies for Antigen-specific tolerance induction in vivo
    • Istituto San Raffaele Telethon per la Terapia Genica - TIGET
    • Unità di Ricerca Clinica Pediatrica
    • More details
    • ITALY
    • PIEMONTE
    • TORINO
    • Genetics basis of Mental Retardation
    • A.O. Città della Salute e della Scienza di Torino - Ospedale Regina Margherita
    • Struttura Semplice di Genetica
    • More details
    • ITALY
    • PIEMONTE
    • TORINO
    • Funded by an IRDiRC member
    • Homopolymeric alanine repeats: structure, function, and mechanistic role in the pathogenesis of polyalanine expansion genetic diseases
    • Università degli Studi di Torino
    • Sezione di Neuroscienze
    • More details
    • ITALY
    • SICILIA
    • TROINA
    • Usefulness of 244K array-cgh in the ascertainment of cryptic chromosomal rearrangements in Mental Retardation and Autism
    • IRCCS OASI Maria Santissima
    • U.O.C.di Pediatria e Genetica Medica
    • More details
    • ITALY
    • SICILIA
    • TROINA
    • Usefulness of 244K array-cgh in the ascertainment of cryptic chromosomal rearrangements in Mental Retardation and Autism
    • IRCCS OASI Maria Santissima
    • Laboratorio di Diagnosi Genetica
    • More details
    • PORTUGAL
    • SUL
    • LISBOA
    • Noninvasive dynamic neuroimaging in epilepsy
    • Instituto Superior Técnico
    • LaSEEB-Evolutionary Systems and Biomedical Engineering Lab
    • More details
    • SWITZERLAND
    • Suisse Alémanique
    • SCHLIEREN
    • Identification of novel autosomal genes causing mental retardation
    • Universität Zürich
    • Institut für Medizinische Genetik
    • More details
    • UNITED KINGDOM
    • Cambridgeshire
    • CAMBRIDGE
    • Funded by an IRDiRC member
    • NIHR BioResource - Rare Disease: SPEED - Specialist Pathology: Evaluating Exomes in Diagnostics
    • Wellcome Trust/MRC Building
    • Cambridge Institute for Medical Research
    • More details
    • UNITED KINGDOM
    • Cambridgeshire
    • HINXTON
    • The Deciphering Developmental Disorders (the DDD study)
    • Wellcome Trust Sanger Institute
    • DECIPHER
    • More details
    • UNITED KINGDOM
    • County Antrim
    • NEWTOWNABBEY
    • Epidemiological studies on congenital anomaly prevalence, risk factors, prevention and prenatal screening
    • University of Ulster
    • EUROCAT Central Registry
    • More details
    • UNITED KINGDOM
    • Devon
    • EXETER
    • Exploring the Genetics of Renal Developmental Disease
    • Royal Devon and Exeter Hospital - Wonford site
    • Department of Urology
    • More details
    • UNITED KINGDOM
    • Lothian
    • EDINBURGH
    • Genetic disorders of human brain development
    • Western General Hospital
    • MRC Human Genetics Unit
    • More details
    • UNITED KINGDOM
    • Oxfordshire
    • OXFORD
    • Structural Brain Abnormalities and Learning Disability
    • The Churchill Hospital
    • Department of Clinical Genetics
    • More details
    • UNITED KINGDOM
    • West Midlands
    • BIRMINGHAM
    • NIPSIGEN - Clinical translation of non-invasive prenatal diagnosis (NIPD) for single gene disorders (Health Innovation Challenge Fund)
    • Birmingham Women's NHS Foundation Trust
    • Regional Genetics Unit
    • More details
  • Multicentric Research projects

    • CANADA
    • Colombie-Britannique
    • VANCOUVER
    • Maternal Infant Child and Youth Research Network (MICYRN)
    • University of British Columbia
    • Maternal Infant Child and Youth Research Network
    • More details
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • EPICURE: Functional genomics and neurobiology of epilepsy: a basis for new therapeutic strategies
    • Hertie-Institut für klinische Hirnforschung (HIH)
    • Abteilung für Neurologie mit Schwerpunkt Epileptologie
    • More details
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Funded by an IRDiRC member
    • NGFN plus: EMINet - Epilepsy and Migraine integrated network -terminated
    • Hertie-Institut für klinische Hirnforschung (HIH)
    • Abteilung für Neurologie mit Schwerpunkt Epileptologie
    • More details
    • GERMANY
    • Bayern
    • ERLANGEN
    • Funded by an IRDiRC member
    • MRNET: German Mental Retardation Network
    • Humangenetisches Institut am Universitätsklinikum Erlangen
    • Humangenetisches Institut
    • More details
    • GERMANY
    • Bayern
    • MÜNCHEN
    • BNE: BrainNet Europe II: European brain tissue bank
    • Zentrum für Neuropathologie und Prionforschung (ZNP)
    • Zentrum für Neuropathologie und Prionforschung der LMU München
    • More details
    • GERMANY
    • Berlin
    • BERLIN
    • Informationszentrum Epilepsie der Dt. Gesellschaft für Epileptologie e.V.
    • Informationszentrum Epilepsie der Dt. Gesellschaft für Epileptologie
    • More details
    • GERMANY
    • Hamburg
    • HAMBURG
    • Funded by an IRDiRC member
    • NGFN plus: EMINet - Epilepsy and Migraine integrated network -terminated
    • UKE - Universitätsklinikum Hamburg-Eppendorf
    • Institut für Humangenetik
    • More details
    • GERMANY
    • Sachsen-Anhalt
    • MAGDEBURG
    • International Clearinghouse for Birth Defects Monitoring Systems
    • Universitätsklinikum Magdeburg A.ö.R
    • MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
    • More details
    • ITALY
    • LAZIO
    • ROMA
    • UnRareNet:A muticenter collaborative research network for the identification and study of rare undiagnosed patients
    • IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
    • Ambulatorio Polispecialistico per le Malattie Rare
    • More details
    • ITALY
    • SICILIA
    • MESSINA
    • CHERISH: improving diagnoses of mental retardation in children in Central Eastern Europe and Central Asia through genetic characterisation and bioinformatics/biostatistics
    • A.O.U. Policlinico "G. Martino"
    • U.O. di Neuropsichiatria Infantile - Dipartimento di Scienze Pediatriche
    • More details
    • ITALY
    • VENETO
    • PADOVA
    • Funded by an IRDiRC member
    • GRIP: Global Research in Paediatrics
    • Azienda Ospedaliera di Padova
    • More details
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • GENCODYS - Genetic and Epigenetic Networks in Cognitive Dysfunction
    • Radboudumc - Radboud universitair medisch centrum
    • Afdeling Genetica
    • More details
    • SPAIN
    • Cataluña
    • BARCELONA
    • RGPG: Genotyping and Psychiatric Genetics Network (FINISHED)
    • Centro de Regulación Genómica
    • Programa Genes y Enfermedad
    • More details
    • SPAIN
    • Cataluña
    • L'HOSPITALET DE LLOBREGAT
    • CIEN: Spanish Network for Cooperative Research in Neurological diseases
    • Hospital Universitari de Bellvitge
    • Unidad de Neuropatología
    • More details
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • EpiPGX: Epilepsy Pharmacogenomics: delivering biomarkers for clinical use
    • UCL Institute of Neurology
    • Department of Clinical and Experimental Epilepsy
    • More details