Hasil Pencarian - Austin A. Larson

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  1. 1
    A Novel Intronic Pathogenic Variant in With a Dominant Negative Mechanism Causes Attenuated Lipoid Congenital Adrenal Hyperplasia

    A Novel Intronic Pathogenic Variant in With a Dominant Negative Mechanism Causes Attenuated Lipoid Congenital Adrenal Hyperplasia oleh Erin Finn MD, Kimberly Kripps MD, Christina Chambers MD, Michele Rapp MS, Naomi J. L. Meeks MD, Fang Xu PhD, Wuyan Chen PhD, Austin A. Larson MD, Natalie J. Nokoff MD, MSCS

    Diterbitkan 2021-05-01
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  2. 2
    TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy

    TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy oleh Austin A. Larson, Peter R. Baker, Miroslav P. Milev, Craig A. Press, Ronald J. Sokol, Mary O. Cox, Jacqueline K. Lekostaj, Aaron A. Stence, Aaron D. Bossler, Jennifer M. Mueller, Keshika Prematilake, Thierry Fotsing Tadjo, Charles A. Williams, Michael Sacher, Steven A. Moore

    Diterbitkan 2018-05-01
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