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35 Result(s)

Funded by an IRDiRC member =

    23 Research projects; 12 Multicentric Research projects

    Research projects

    • Personalized functional genomics in Mendelian diseases: from DNA variants to clinical and bioethical implications
    • Center for Medical Genetics Ghent
    • More details
    • BELGIUM
    • OOST-VLAANDEREN
    • GENT
    • Belgian Medical Genomics Initiative (BeMGI)
    • Center for Medical Genetics Ghent
    • More details
    • BELGIUM
    • OOST-VLAANDEREN
    • GENT
    • 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
    • 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
    • Risk factors for congenital anorectal malformations
    • Abt. Klinische Epidemiologie und Alternsforschung
    • CURE-Net Register Heidelberg
    • More details
    • GERMANY
    • Baden-Württemberg
    • HEIDELBERG
    • Funded by an IRDiRC member
    • Towards better AAV gene therapy: whole genome sirna and microrna high throughput screening for the identification of the molecular determinants governing AAV vector transduction, vector production and vector-induced gene correction
    • Università degli Studi di Trieste
    • Dipartimento di Scienze Mediche, Chirurgiche e della Salute
    • More details
    • ITALY
    • FRIULI VENEZIA GIULIA
    • TRIESTE
    • Clinical and molecular characterization of genetic syndromes with congenital heart disease
    • IRCCS Ospedale Pediatrico Bambino Gesù
    • U.O.C. Laboratorio di Genetica Medica
    • More details
    • ITALY
    • LAZIO
    • ROMA
    • Deletion of KDM6A a histone demethylase interacting with MLL2 in Three patients with Kabuki Syndrome
    • IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
    • S.S. di Genetica Medica
    • More details
    • ITALY
    • 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
    • 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
    • LAZIO
    • ROMA
    • Genomic diagnosis and classification of rare disorders with mental retardation using high throughput technologies
    • Istituto CSS-Mendel
    • Laboratorio Specializzato di Genetica Medica
    • More details
    • ITALY
    • LAZIO
    • ROMA
    • Funded by an IRDiRC member
    • Development of an in vitro disease model system for dissecting the epigenetic mechanisms underlying pathogenesis of Kabuki syndrome
    • Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
    • Istituto Nazionale Genetica Molecolare
    • 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
    • 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
    • An integrated strategy to functionally dissect the genetic and epigenetic mechanisms underlying Kabuki Syndrome
    • IRCCS Ospedale Casa Sollievo della Sofferenza - Polamb. Giovanni Paolo II
    • S.C. di Genetica Medica
    • More details
    • ITALY
    • PUGLIA
    • SAN GIOVANNI ROTONDO
    • 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 (IdiPAZ)
    • 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
    • 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
    • Genetic disorders of human brain development
    • Western General Hospital
    • MRC Human Genetics Unit
    • More details
    • UNITED KINGDOM
    • Lothian
    • EDINBURGH
    • 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
    • RSFK: French network of Kabuki syndrome
    • CHU Paris - Hôpital Necker-Enfants Malades
    • Laboratoire de Génétique Moléculaire
    • More details
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Funded by an IRDiRC member
    • MRNET: German Mental Retardation Network -terminated
    • 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
    • Funded by an IRDiRC member
    • CURE-Net: Network for congenital uro-rectal malformations
    • Universitätsklinikum Bonn
    • Institut für Humangenetik
    • More details
    • GERMANY
    • Nordrhein-Westfalen
    • BONN
    • 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
    • Funded by an IRDiRC member
    • 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