Hasil Pencarian - Bryn D. Webb

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  1. 1
    A framework for the evaluation of patients with congenital facial weakness

    A framework for the evaluation of patients with congenital facial weakness oleh Bryn D. Webb, Irini Manoli, Elizabeth C. Engle, Ethylin W. Jabs

    Diterbitkan 2021-04-01
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  2. 2
    Mirror Movements Identified in Patients with Moebius Syndrome

    Mirror Movements Identified in Patients with Moebius Syndrome oleh Bryn D. Webb, Tamiesha Frempong, Thomas P. Naidich, Harald Gaspar, Ethylin Wang Jabs, Janet C. Rucker

    Diterbitkan 2014-07-01
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  3. 3
    An algorithm to identify patients aged 0–3 with rare genetic disorders

    An algorithm to identify patients aged 0–3 with rare genetic disorders oleh Bryn D. Webb, Lisa Y. Lau, Despina Tsevdos, Ryan A. Shewcraft, David Corrigan, Lisong Shi, Seungwoo Lee, Jonathan Tyler, Shilong Li, Zichen Wang, Gustavo Stolovitzky, Lisa Edelmann, Rong Chen, Eric E. Schadt, Li Li

    Diterbitkan 2024-05-01
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  4. 4
    Recessive pathogenic variants in MCAT cause combined oxidative phosphorylation deficiency

    Recessive pathogenic variants in MCAT cause combined oxidative phosphorylation deficiency oleh Bryn D Webb, Sara M Nowinski, Ashley Solmonson, Jaya Ganesh, Richard J Rodenburg, Joao Leandro, Anthony Evans, Hieu S Vu, Thomas P Naidich, Bruce D Gelb, Ralph J DeBerardinis, Jared Rutter, Sander M Houten

    Diterbitkan 2023-03-01
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  5. 5
    Lessons learned from expanded reproductive carrier screening in self‐reported Ashkenazi, Sephardi, and Mizrahi Jewish patients

    Lessons learned from expanded reproductive carrier screening in self‐reported Ashkenazi, Sephardi, and Mizrahi Jewish patients oleh Gidon Akler, Ashley H. Birch, Nicole Schreiber‐Agus, Xiaoqiang Cai, Guiqing Cai, Lisong Shi, Chunli Yu, Anastasia M. Larmore, Geetu Mendiratta‐Vij, Lama Elkhoury, Mitchell W. Dillon, Jun Zhu, Andrew S. Mclellan, Funda E. Suer, Bryn D. Webb, Eric E. Schadt, Ruth Kornreich, Lisa Edelmann

    Diterbitkan 2020-02-01
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  6. 6
    A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome

    A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome oleh Silvio Alessandro Di Gioia, Samantha Connors, Norisada Matsunami, Jessica Cannavino, Matthew F. Rose, Nicole M. Gilette, Pietro Artoni, Nara Lygia de Macena Sobreira, Wai-Man Chan, Bryn D. Webb, Caroline D. Robson, Long Cheng, Carol Van Ryzin, Andres Ramirez-Martinez, Payam Mohassel, Mark Leppert, Mary Beth Scholand, Christopher Grunseich, Carlos R. Ferreira, Tyler Hartman, Ian M. Hayes, Tim Morgan, David M. Markie, Michela Fagiolini, Amy Swift, Peter S. Chines, Carlos E. Speck-Martins, Francis S. Collins, Ethylin Wang Jabs, Carsten G. Bönnemann, Eric N. Olson, Moebius Syndrome Research Consortium, John C. Carey, Stephen P. Robertson, Irini Manoli, Elizabeth C. Engle

    Diterbitkan 2017-07-01
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