Showing 1 - 2 results of 2 for search 'Shalini Jhangiani', query time: 0.01s Refine Results
  1. 1
    P330: Understanding the disease mechanisms and copy number variations at 17p11.2 locus that do not encompass the dosage sensitive RAI1 gene

    P330: Understanding the disease mechanisms and copy number variations at 17p11.2 locus that do not encompass the dosage sensitive RAI1 gene by Shruti Pande, Christopher Grochowski, Davut Pehlivan, Parneet Kaur, Zain Dardas, Haowei Du, Chelsi Rose, Josephine Wincent, Shalini Jhangiani, Lorraine Potocki, Philip Hastings, Jennifer Posey, Anna Lindstrand, Claudia Carvalho, James Lupski

    Published 2025-01-01
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  2. 2
    Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.

    Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. by Michael F Wangler, Claudia Gonzaga-Jauregui, Tomasz Gambin, Samantha Penney, Timothy Moss, Atul Chopra, Frank J Probst, Fan Xia, Yaping Yang, Steven Werlin, Ieva Eglite, Liene Kornejeva, Carlos A Bacino, Dustin Baldridge, Jeff Neul, Efrat Lev Lehman, Austin Larson, Joke Beuten, Donna M Muzny, Shalini Jhangiani, Baylor-Hopkins Center for Mendelian Genomics, Richard A Gibbs, James R Lupski, Arthur Beaudet

    Published 2014-03-01
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