Hasil Pencarian - Anne Higgins

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  1. 1
    P576: Recalibration of scoring metrics to assess the pathogenicity of constitutional copy number variants (CNVs)*

    P576: Recalibration of scoring metrics to assess the pathogenicity of constitutional copy number variants (CNVs)* oleh Emily Spector, Erica Andersen, John Herriges, Anne Higgins, Brynn Levy, Ludmila Matyakhina, Christa Martin, Daniel Pineda-Alvarez, Lina Shao, Shashirekha Shetty, Andrea Vaags, Erik Thorland, Sung-Hae Kang, Chelsea Lowther, Dominic McMullan, Erin Riggs

    Diterbitkan 2024-01-01
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  2. 2
    NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.

    NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects. oleh Weining Lu, Fabiola Quintero-Rivera, Yanli Fan, Fowzan S Alkuraya, Diana J Donovan, Qiongchao Xi, Annick Turbe-Doan, Qing-Gang Li, Craig G Campbell, Alan L Shanske, Elliott H Sherr, Ayesha Ahmad, Roxana Peters, Benedict Rilliet, Paloma Parvex, Alexander G Bassuk, David J Harris, Heather Ferguson, Chantal Kelly, Christopher A Walsh, Richard M Gronostajski, Koenraad Devriendt, Anne Higgins, Azra H Ligon, Bradley J Quade, Cynthia C Morton, James F Gusella, Richard L Maas

    Diterbitkan 2007-05-01
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