Works matching Short tandem repeat analysis

Results: 1544
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    Analysis of Short Tandem Repeat Expansions in a Cohort of 12,496 Exomes from Patients with Neurological Diseases Reveals Variable Genotyping Rate Dependent on Exome Capture Kits.

    Published in:
    Genes, 2025, v. 16, n. 2, p. 169, doi. 10.3390/genes16020169
    By:
    • Rocca, Clarissa;
    • Murphy, David;
    • Clarkson, Chris;
    • Zanovello, Matteo;
    • Gagliardi, Delia;
    • Genomics, Queen Square;
    • Kaiyrzhanov, Rauan;
    • Alvi, Javeria;
    • Maroofian, Reza;
    • Efthymiou, Stephanie;
    • Sultan, Tipu;
    • Vandrovcova, Jana;
    • Polke, James;
    • Labrum, Robyn;
    • Houlden, Henry;
    • Tucci, Arianna
    Publication type:
    Article
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    Clinical and functional characterisation of a recurrent KCNQ1 variant in the Belgian population.

    Published in:
    Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02618-4
    By:
    • Sieliwonczyk, Ewa;
    • Alaerts, Maaike;
    • Simons, Eline;
    • Snyders, Dirk;
    • Nijak, Aleksandra;
    • Vandendriessche, Bert;
    • Schepers, Dorien;
    • Akdeniz, Dogan;
    • Van Craenenbroeck, Emeline;
    • Knaepen, Katleen;
    • Rabaut, Laura;
    • Heidbuchel, Hein;
    • Van Laer, Lut;
    • Saenen, Johan;
    • Labro, Alain J.;
    • Loeys, Bart
    Publication type:
    Article
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