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5 Result(s)

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Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • Accreditation
    • Molecular diagnosis of Autosomal Recessive Congenital Ichthyosis Types 1, 2, 3, 5 and 6 by sequencing of the entire coding region of the gene(s) and targetted mutation analysis (Genes: ALOXE3, ALOX12B, CYP4F22, NIPAL4, TGM1)
    • Ninewells Hospital and Medical School
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • UNITED KINGDOM
    • Tayside
    • DUNDEE
    • Molecular diagnosis of autosomal recessive congenital ichthyosis (ABCA12, ALOX12B, ALOXE3, CYP4F22, NIPAL4, TGM1 genes / entire coding sequence)
    • IMEGEN - Instituto de Medicina Genómica
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of autosomal recessive congenital ichthyosis (TGM1 gene: Sequencing of the entire coding region)
    • CGC Genetics / Centro de Genética Clínica
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Molecular diagnosis of bathing suit ichthyosis (TGM1 gene)
    • Innovagenomics, S.L.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Castilla - León
    • SALAMANCA
    • Electron microscopic diagnosis of ichthyosis
    • Universitäts-Hautklinik Heidelberg
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Pathology
    • More information
    • GERMANY
    • Baden-Württemberg
    • HEIDELBERG