檢索結果 - Keshika Prematilake

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    Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction

    Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction 由 Miroslav P. Milev, Megan E. Grout, Djenann Saint‐Dic, Yong-Han Hank Cheng, Ian Glass, Christopher J. Hale, D. Hanna, Michael O. Dorschner, Keshika Prematilake, Avraham Shaag, Orly Elpeleg, Michael Sacher, Dan Doherty, Simon Edvardson

    出版 2017
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    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 由 Austin Larson, Peter R. Baker, Miroslav P. Milev, Craig A. Press, Ronald J. Sokol, Mary O. Cox, Jacqueline K. Lekostaj, Aaron A. Stence, Aaron Bossler, Jennifer M. Mueller, Keshika Prematilake, Thierry Fotsing Tadjo, Charles A. Williams, Michael Sacher, Steven A. Moore

    出版 2018
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