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6 ta ish

Ish: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

  1. Critical assessment of secondary findings in genes linked to primary arrhythmia syndromes

    Isabel Diebold, Ulrike Schön, Florentine Scharf +4

    MaqolaCardiac electrophysiology and arrhythmiasHuman Mutation20200 iqtibos
    ABI

  2. The Novel Frameshift Variant of the MYBPC3 Gene Associated with Hypertrophic Cardiomyopathy Significantly Decreases the Level of This Gene Transcript in the Myocardium

    И. С. Киселев, М. С. Козин, Natalia Baulina +8

    MaqolaCardiomyopathy and Myosin StudiesRussian Journal of Genetics20240 iqtibos
    ABI

  3. Exploring the clinical and genetic spectrum of Steel syndrome: two case reports and review of the literature

    Daria Gorodilova, Vladimir Kenis, Khushnud Khusainovich Rustamov +15

    MaqolaSkin and Cellular Biology ResearchFrontiers in Medicine20260 iqtibos
    ABI

  4. Clinical Variability Within the PLOD2-Associated Phenotypic Continuum: Three Novel Variants in Four Patients from a Descriptive Case Series

    Elena S. Merkuryeva, Е. А. Melnik, Vladimir M. Kenis +8

    MaqolaConnective tissue disorders researchGenes20260 iqtibos
    ABI

  5. Global survey of genetic testing methods for familial hypercholesterolaemia: a study and recommendations from the European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration registry

    Joana Rita Chora, Irene Karungi, Amany Elshorbagy +70

    MaqolaLipoproteins and Cardiovascular HealthEuropean Journal of Preventive Cardiology20260 iqtibos
    ABI

  6. Clinical and Genetic Characterization of a Russian Family with Bardet–Biedl Syndrome Carrying a Previously Undescribed Missense Variant and a Recurrent Pathogenic Frameshift Variant in BBS7 Gene

    Alexandra F. Nikolaeva, Timur V. Boyko, Vitaly V. Kadyshev +9

    MaqolaGenetic and Kidney Cyst DiseasesGenes20260 iqtibos
    ABI