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36 Result(s)

Funded by an IRDiRC member =

    23 Research projects; 13 Multicentric Research projects

    Research projects

    • 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
    • BELGIUM
    • OOST-VLAANDEREN
    • GENT
    • Detection and simulation of femoroacetabular impingement
    • University of Ottawa
    • School of Electrical Engineering and Computer Science (EECS)
    • More details
    • CANADA
    • Ontario
    • OTTAWA, ONTARIO
    • Funded by an IRDiRC member
    • Computerized Patient Phenotyping to Connect Canadian Clinical Genetics Clinics
    • University of Toronto
    • Department of Computer Science
    • More details
    • CANADA
    • Ontario
    • TORONTO
    • Evaluation of the clinical service provided in a Greek Department of Genetics, in the field of rare dysmorphic syndromes
    • Aarhus Universitetshospital - Aalborg
    • Department of clinical genetics
    • More details
    • DENMARK
    • Nordjylland
    • AALBORG
    • 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
    • FRANCE
    • RHONE-ALPES
    • BRON
    • Funded by an IRDiRC member
    • EUROMICRO: Primäre, monogene Mikrozephalien: von der Genetik zur Pathophysiologie und Klinik (partner no 3)
    • Institut für Humangenetik am Universitätsklinikum Köln
    • Institut für Humangenetik
    • More details
    • GERMANY
    • Nordrhein-Westfalen
    • KÖLN
    • The policy of public health genomics in Italy
    • IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
    • Servizio Clinico di Consulenza Genetica
    • More details
    • ITALY
    • LAZIO
    • ROMA
    • 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
    • Cell therapy strategies for tolerance induction in humans
    • Istituto San Raffaele Telethon per la Terapia Genica - TIGET
    • Istituto San Raffaele Telethon per la Terapia Genica
    • 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
    • LOMBARDIA
    • MILANO
    • Funded by an IRDiRC member
    • Whole exome sequencing for the study of 30 children with developmental delay or moderate to severe
    • INGEMM - Instituto de Genética Médica y Molecular
    • Sección de Genómica Estructural y Funcional
    • More details
    • SPAIN
    • Madrid
    • MADRID
    • Identification of novel autosomal genes causing mental retardation
    • Universität Zürich
    • Institut für Medizinische Genetik
    • More details
    • SWITZERLAND
    • Suisse Alémanique
    • SCHLIEREN
    • CRANIRARE: an integrated clinical and scientific approach for craniofacial malformations (partner No. 5)
    • Hacettepe University Faculty of Medicine
    • Chemical Engineering and Bioengineering Departments
    • More details
    • TURKEY
    • TURKEY
    • ANKARA
    • CRANIRARE: an integrated clinical and scientific approach for craniofacial malformations (partner No. 3)
    • Hacettepe University Faculty of Medicine
    • Department of genetic
    • More details
    • TURKEY
    • TURKEY
    • ANKARA
    • CRANIRARE: an integrated clinical and scientific approach for craniofacial malformations (partner No. 4)
    • Istanbul Universitesi, Tip Fakültesi
    • Department of Medical Genetics
    • More details
    • TURKEY
    • TURKEY
    • ISTANBUL
    • Funded by an IRDiRC member
    • Active BRIDGE Studies - Specialist Pathology: Evaluating Exomes in Diagnostics (SPEED)
    • Wellcome Trust/MRC Building
    • Cambridge Institute for Medical Research
    • More details
    • UNITED KINGDOM
    • Cambridgeshire
    • CAMBRIDGE
    • The Deciphering Developmental Disorders (the DDD study)
    • Wellcome Trust Sanger Institute
    • DECIPHER
    • More details
    • UNITED KINGDOM
    • Cambridgeshire
    • HINXTON
    • Exploring the Genetics of Renal Developmental Disease
    • Royal Devon and Exeter Hospital - Wonford site
    • Department of Urology
    • More details
    • UNITED KINGDOM
    • Devon
    • EXETER
    • 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
    • More details
    • UNITED KINGDOM
    • Lothian
    • EDINBURGH
    • Genetic disorders of human brain development
    • Western General Hospital
    • MRC Human Genetics Unit
    • More details
    • UNITED KINGDOM
    • Lothian
    • EDINBURGH
    • ESDN: European Skeletal Dysplasia Network (coordination)
    • International Centre for Life
    • Institute of Genetic Medicine
    • More details
    • UNITED KINGDOM
    • Tyne & Wear
    • NEWCASTLE UPON TYNE
    • 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
    • UNITED KINGDOM
    • West Midlands
    • BIRMINGHAM
  • Multicentric Research projects

    • Maternal Infant Child and Youth Research Network (MICYRN)
    • University of British Columbia
    • Maternal Infant Child and Youth Research Network
    • More details
    • CANADA
    • Colombie-Britannique
    • VANCOUVER
    • Funded by an IRDiRC member
    • EUROMICRO: Primary monogenic microcephalies : from genetics to pathophysiology and the clinic
    • CHU Paris - Hôpital Robert Debré
    • Unité fonctionnelle de génétique clinique
    • More details
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Funded by an IRDiRC member
    • SKELNET: Skeletal Dysplasia Network - terminated
    • Zentrum für Kinder- und Jugendmedizin Freiburg
    • Geschäftsstelle SKELNET e.V. - Sektion Pädiatrische Genetik
    • More details
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Funded by an IRDiRC member
    • MRNET: German Mental Retardation Network
    • Humangenetisches Institut am Universitätsklinikum Erlangen
    • Humangenetisches Institut
    • More details
    • GERMANY
    • Bayern
    • ERLANGEN
    • 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
    • Bayern
    • MÜNCHEN
    • International Clearinghouse for Birth Defects Monitoring Systems
    • Universitätsklinikum Magdeburg A.ö.R
    • MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
    • More details
    • GERMANY
    • Sachsen-Anhalt
    • MAGDEBURG
    • UnRareNet: a muticenter collaborative research network for the identification and study of rare undiagnosed patients
    • IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
    • Servizio Clinico di Consulenza Genetica
    • More details
    • ITALY
    • LAZIO
    • ROMA
    • 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
    • SICILIA
    • MESSINA
    • Funded by an IRDiRC member
    • GRIP: Global Research in Paediatrics
    • Azienda Ospedaliera di Padova
    • More details
    • ITALY
    • VENETO
    • PADOVA
    • GENCODYS - Genetic and Epigenetic Networks in Cognitive Dysfunction
    • Radboudumc - Radboud universitair medisch centrum
    • Afdeling Genetica
    • More details
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • RGPG: Genotyping and Psychiatric Genetics Network (FINISHED)
    • Centro de Regulación Genómica
    • Programa Genes y Enfermedad
    • More details
    • SPAIN
    • Cataluña
    • BARCELONA
    • CIEN: Spanish Network for Cooperative Research in Neurological diseases
    • Hospital Universitari de Bellvitge
    • Unidad de Neuropatología
    • More details
    • SPAIN
    • Cataluña
    • L'HOSPITALET DE LLOBREGAT
    • ESDN: European Skeletal Dysplasia Network
    • Faculty of of Life Sciences - University of Manchester
    • Wellcome Trust Centre for Cell Matrix Research - B.3016
    • More details
    • UNITED KINGDOM
    • Greater Manchester
    • MANCHESTER