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Funded by an IRDiRC member =

    • BELGIUM
    • OOST-VLAANDEREN
    • GENT
    • Molecular genetic investigation of apparently balanced translocations in patients with mental retardation and multiple congenital malformations.
    • Ghent University Hospital - UZGent
    • Center for Medical Genetics Ghent
    • 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
    • The Institute of Molecular and Cell Biology
    • More details
    • FRANCE
    • ILE-DE-FRANCE
    • BONDY
    • Cryptic anomalies by CGH array in children with mental retardation and ophtalmologic anomalies
    • CHU Paris Seine-Saint-Denis - Hôpital Jean Verdier
    • Laboratoire de cytogénétique et biologie de la reproduction
    • More details
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Identification of the molecular basis for unexplained mental retardation
    • CHU Paris - Hôpital Necker-Enfants Malades
    • Laboratoire de Génétique Moléculaire
    • More details
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Chromosomic errors and syndromic mental retardations
    • CHU Paris - Hôpital Necker-Enfants Malades
    • Laboratoire de Génétique Moléculaire
    • More details
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • RSFK: epidemiology, care and search by high density CGH-array of Kabuchi syndrome
    • CHU Paris - Hôpital Necker-Enfants Malades
    • Laboratoire de Génétique Moléculaire
    • 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
    • Berlin
    • BERLIN
    • CURE-Net: Functional validation of candidate genes for anorectal malformation and exstrophy-epispadias complex in mice
    • Max-Planck-Institut für molekulare Genetik
    • Abteilung Entwicklungsgenetik
    • More details
    • GERMANY
    • Bremen
    • BREMEN
    • CURE-Net: Cross-sectional study for improvement of diagnosis and treatment of patients with anorectal malformation
    • Klinikum Bremen-Mitte
    • Klinik für Kinderchirurgie und Kinderurologie
    • More details
    • GERMANY
    • Nordrhein-Westfalen
    • BONN
    • CURE-Net: Systematic gene identification in anorectal malformation and exstrophy-epispadias complex
    • Universitätsklinikum Bonn
    • Institut für Humangenetik
    • More details
    • GERMANY
    • Nordrhein-Westfalen
    • MÜNSTER
    • CURE-Net: Quality of life survey in patients with anorectal malformation and exstrophy-epispadias complex
    • LWL-Abteilung für Krankenhäuser und Gesundheitswesen
    • LWL-PsychiatrieVerbund Westfalen
    • More details
    • ITALY
    • LAZIO
    • ROMA
    • Clinical and molecular characterization of genetic syndromes with congenital heart disease
    • IRCCS Ospedale Pediatrico Bambino Gesù
    • Struttura Semplice di Citogenetica e Genetica Molecolare
    • 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
    • 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
    • LOMBARDIA
    • MILANO
    • 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
    • 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
    • PUGLIA
    • SAN GIOVANNI ROTONDO
    • An integrated strategy to functionally dissect the genetic and epigenetic mechanisms underlying Kabuki Syndrome
    • IRCCS Ospedale Casa Sollievo della Sofferenza - Polamb. Giovanni Paolo II
    • Servizio di 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
    • 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
    • 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
    • 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
    • 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