نتائج البحث - Harper B Fauni
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1
Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of<i>SLC12A2</i> حسب 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
منشور في 2019Artigo -
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A recurrent de novo missense mutation in UBTF causes developmental neuroregression حسب 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
منشور في 2017Artigo