检索结果 - Vipulkumar Patel

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  1. 1
    Validation Studies for Single Circulating Trophoblast Genetic Testing as a Form of Noninvasive Prenatal Diagnosis

    Validation Studies for Single Circulating Trophoblast Genetic Testing as a Form of Noninvasive Prenatal Diagnosis 由 Liesbeth Vossaert, Qun Wang, Roseen Salman, Anne K. McCombs, Vipulkumar Patel, Chunjing Qu, Michael A. Mancini, Dean P. Edwards, Anna Malovannaya, Pengfei Liu, Chad A. Shaw, Brynn Levy, Ronald J. Wapner, Weimin Bi, Amy M. Breman, Ignatia B. Van den Veyver, Arthur L. Beaudet

    出版 2019
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  2. 2
    Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder

    Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder 由 Elizabeth A. Normand, Alicia Braxton, Salma Nassef, Patricia A. Ward, Francesco Vetrini, Weimin He, Vipulkumar Patel, Chunjing Qu, Lauren Westerfield, Samantha Stover, Avinash V. Dharmadhikari, Donna M. Muzny, Richard A. Gibbs, Hongzheng Dai, Linyan Meng, Xia Wang, Rui Xiao, Pengfei Liu, Weimin Bi, Fan Xia, Magdalena Walkiewicz, Ignatia B. Van den Veyver, Christine M. Eng, Yaping Yang

    出版 2018
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  3. 3
    De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features

    De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features 由 Mari Tokita, Chun‐An Chen, David Chitayat, Ellen F. Macnamara, Jill A. Rosenfeld, Neil A. Hanchard, Andrea M. Lewis, Chester Brown, Ronit Marom, Yunru Shao, Danica Novacic, Lynne A. Wolfe, Colleen E. Wahl, Cynthia J. Tifft, Camilo Toro, Jonathan A. Bernstein, Caitlin L. Hale, Julia Silver, Louanne Hudgins, Amitha Ananth, Andrea Hanson‐Kahn, Shirley Shuster, Pilar Magoulas, Vipulkumar Patel, Wenmiao Zhu, Stella M. Chen, Yanjun Jiang, Pengfei Liu, Christine M. Eng, Dominyka Batkovskyte, Alberto di Ronza, Marco Sardiello, Brendan Lee, Christian P. Schaaf, Yaping Yang, Xia Wang

    出版 2018
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  4. 4
    Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

    Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies 由 Bo Yuan, Juanita Neira, Davut Pehli̇van, Teresa Santiago‐Sim, Xiaofei Song, Jill A. Rosenfeld, Jennifer E. Posey, Vipulkumar Patel, Weihong Jin, Margaret P Adam, Emma L. Baple, John Dean, Chin‐To Fong, Scott E. Hickey, Louanne Hudgins, Eyby Leon, Suneeta Madan‐Khetarpal, Lettie E. Rawlins, Cecilie F. Rustad, Asbjørg Stray‐Pedersen, Kristian Tveten, Olivia Wenger, Jullianne Diaz, Laura Jenkins, Laura Martin, Marianne McGuire, Marguerite Pietryga, Linda Ramsdell, Leah Slattery, Farida Abid, Alison A. Bertuch, Dorothy K. Grange, LaDonna Immken, Christian P. Schaaf, Hilde Van Esch, Weimin Bi, Sau Wai Cheung, Amy M. Breman, Janice Smith, Chad A. Shaw, Andrew H. Crosby, Christine M. Eng, Yaping Yang, James R. Lupski, Rui Xiao, Pengfei Liu

    出版 2018
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