Sökresultat - Harper B Fauni

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  1. 1
    Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of<i>SLC12A2</i>

    Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of<i>SLC12A2</i> av Ellen F. Macnamara, Alanna E. Koehler, Precilla D’Souza, Tyra Estwick, Paul Lee, Gilbert Vézina, Harper B Fauni, Stephen R. Braddock, Erin Torti, James Holt, Prashant Sharma, May Christine V. Malicdan, Cynthia J. Tifft

    Publicerad 2019
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  2. 2
    A recurrent de novo missense mutation in UBTF causes developmental neuroregression

    A recurrent de novo missense mutation in UBTF causes developmental neuroregression av Camilo Toro, Roderick Hori, May Christine V. Malicdan, Cynthia J. Tifft, Amy Goldstein, William A. Gahl, David R. Adams, Harper B Fauni, Lynne A. Wolfe, Jianfeng Xiao, Mohammad Moshahid Khan, Jun Tian, Kevin A. Hope, Lawrence T. Reiter, Michel G. Tremblay, Tom Moss, Alexis L. Franks, Chris Balak, Mark S. LeDoux

    Publicerad 2017
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