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    • GERMANY
    • Thüringen
    • JENA
    • Collection and characterisation of cases with a small supernumerary marker chomosome with the goal of a genotype phenotype correlation
    • Universitätsklinikum Jena
    • Molekulare Zytogenetik (FISH Labor)
    • More details
    • ITALY
    • LAZIO
    • ROMA
    • Characterization of causative Wolf-Hirschhorn syndrome genetic defect in relation to clinical involvements
    • Policlinico Universitario "A. Gemelli"
    • Servizio di Genetica Medica
    • More details
    • ITALY
    • LAZIO
    • ROMA
    • Characterizing the basic genetic defect in Wolf-Hirschhorn syndrome with respect to phenotipic implications
    • Policlinico Universitario "A. Gemelli"
    • Servizio di Genetica Medica
    • More details
    • ITALY
    • LOMBARDIA
    • MILANO
    • Identification of candidate genes in carriers of balanced chromosomal rearrangements associated with clinical phenotype: study of intragenic breakpoints or contiguous and deregulation of gene expression
    • IRCCS Istituto Auxologico Italiano - Ospedale San Michele
    • Laboratorio di Citogenetica Medica e Genetica Molecolare
    • More details
    • SPAIN
    • Cataluña
    • BARCELONA
    • Diagnostic potential and reliability of array-CGH technique in chorionic villi samplings. Detection of cryptic chromosome abnormalities and possible fetoplacental discrepancies
    • Hospital Clínic de Barcelona
    • Laboratorio de Citogenética y Genética Clínica
    • More details
    • UNITED KINGDOM
    • Cambridgeshire
    • CAMBRIDGE
    • 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
    • Department of Urology
    • More details
    • UNITED KINGDOM
    • East Sussex
    • BRIGHTON
    • Characterising the functional consequences of genomic disorder associated gene copy number variation (CNV) on cell cycle checkpoint proficiency, DNA repair, genomic instability and signal transduction including its implications in 1q21.1 CNV, Wolf-Hirschhorn syndrome and 4p16.3 dup, 2p15p16 del, 11q23qter CNV, 3q29 del and 16p11.2 CNV
    • University of Sussex
    • DNA double strand break repair laboratory
    • 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