檢索結果 - Myla Ashfaq

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    Identification of novel candidate disease genes from de novo exonic copy number variants

    Identification of novel candidate disease genes from de novo exonic copy number variants 由 Tomasz Gambin, Bo Yuan, Weimin Bi, Pengfei Liu, Jill A. Rosenfeld, Zeynep Coban‐Akdemir, Amber N. Pursley, Sandesh C.S. Nagamani, Ronit Marom, Sailaja Golla, Lauren Dengle, Heather G. Petrie, Reuben Matalon, Lisa Emrick, Monica B. Proud, Diane Treadwell‐Deering, Hsiao-Tuan Chao, Hannele Koillinen, Chester Brown, Nora Urraca, Roya Mostafavi, Saunder Bernes, Elizabeth Roeder, Kimberly Nugent, Patricia I. Bader, Gary A. Bellus, Michael A. Cummings, Hope Northrup, Myla Ashfaq, Rachel Westman, Robert S. Wildin, Anita Beck, LaDonna Immken, Lindsay Elton, Shaun Varghese, Edward P. Buchanan, Laurence Faivre, Mathilde Lefebvre, Christian P. Schaaf, Magdalena Walkiewicz, Yaping Yang, Sung-Hae L. Kang, Seema R. Lalani, Carlos A. Bacino, Arthur L. Beaudet, Amy M. Breman, Janice Smith, Sau Wai Cheung, James R. Lupski, Ankita Patel, Chad A. Shaw, Paweł Stankiewicz

    出版 2017
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    Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability

    Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability 由 Chaofan Zhang, Angad Jolly, Brian J. Shayota, Juliana F. Mazzeu, Haowei Du, Moez Dawood, Patricia Celestino Soper, Ariadne Ramalho de Lima, Bárbara Merfort Ferreira, Zeynep Coban‐Akdemir, Janson J. White, Deborah Shears, Fraser Robert Thomson, Sarah Louise Douglas, Andrew Wainwright, Kathryn Bailey, B P Wordsworth, Mike Oldridge, Tracy Lester, Alistair Calder, Katja Dumić, Siddharth Banka, Dian Donnai, Shalini N. Jhangiani, Lorraine Potocki, Wendy K. Chung, Sara Mora, Hope Northrup, Myla Ashfaq, Jill A. Rosenfeld, Kati J. Mason, Lynda Pollack, Allyn McConkie‐Rosell, Wei Kelly, Marie McDonald, Natalie Hauser, Peter Leahy, Cynthia M. Powell, Raquel Boy, Rachel Sayuri Honjo, Fernando Kok, Lúcia Martelli, Vicente Odone Filho, Genomics England Research Consortium, Donna M. Muzny, Richard A. Gibbs, Jennifer E. Posey, Pengfei Liu, James R. Lupski, V. Reid Sutton, Claudia M.B. Carvalho

    出版 2021
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