检索结果 - Jill M. Harris

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    Phenotypic expansion in <i><scp>DDX</scp>3X</i> – a common cause of intellectual disability in females

    Phenotypic expansion in <i><scp>DDX</scp>3X</i> – a common cause of intellectual disability in females 由 Xia Wang, Jennifer E. Posey, Jill A. Rosenfeld, Carlos A. Bacino, Fernando Scaglia, LaDonna Immken, Jill M. Harris, Scott E. Hickey, Theresa Mihalic Mosher, Anne Slavotinek, Jing Zhang, Joke Beuten, Magalie S. Leduc, Weimin He, Francesco Vetrini, Magdalena Walkiewicz, Weimin Bi, Rui Xiao, Pengfei Liu, Yunru Shao, Alper Gezdirici, Elif Yılmaz Güleç, Yunyun Jiang, Sandra Darilek, Adam Hansen, Michael M. Khayat, Davut Pehli̇van, Juliette Piard, Donna M. Muzny, Neil A. Hanchard, John W. Belmont, Lionel Van Maldergem, Richard A. Gibbs, Mohammad K. Eldomery, Zeynep Coban‐Akdemir, Adekunle M. Adesina, Shan Chen, Yi‐Chien Lee, Brendan Lee, James R. Lupski, Christine M. Eng, Fan Xia, Yaping Yang, Brett H. Graham, Paolo Moretti

    出版 2018
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    De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

    De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith... 由 Francesco Vetrini, Shane McKee, Jill A. Rosenfeld, Mohnish Suri, Andrea M. Lewis, Kimberly Nugent, Elizabeth Roeder, Rebecca O. Littlejohn, Sue Holder, Wenmiao Zhu, Joseph T. Alaimo, Brett H. Graham, Jill M. Harris, James B. Gibson, Matthew Pastore, Kim L. McBride, Makanko Komara, Lihadh Al‐Gazali, Aisha Al Shamsi, Elizabeth A. Fanning, Klaas J. Wierenga, Daryl A. Scott, Ziva Ben‐Neriah, Vardiella Meiner, Hanoch Cassuto, Orly Elpeleg, J. Lloyd Holder, Lindsay C. Burrage, Laurie H. Seaver, Lionel Van Maldergem, Sonal Mahida, Janet S. Soul, Margaret Marlatt, Ludmila Matyakhina, Julie Vogt, June-Anne Gold, Soo-Mi Park, Vinod Varghese, Anne Katrin Lampe, Ajith Kumar, Melissa Lees, Muriel Holder‐Espinasse, Vivienne McConnell, Birgitta Bernhard, Ed Blair, Victoria Harrison, Donna M. Muzny, Richard A. Gibbs, Sarah H. Elsea, Jennifer E. Posey, Weimin Bi, Seema R. Lalani, Fan Xia, Yaping Yang, Christine M. Eng, James R. Lupski, Pengfei Liu

    出版 2019
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