检索结果 - April Hall
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Sequence variants in HECTD1 result in a variable neurodevelopmental disorder 由 Gazelle Zerafati‐Jahromi, Elias Oxman, Hieu D. Hoang, Wu‐Lin Charng, Tanvitha Kotla, Weimin Yuan, Kenichi Ishibashi, Sonia Sebaoui, Kathryn Luedtke, Bryce Winrow, Rebecca Ganetzky, Anna Ruiz, Carmen Manso-Basúz, Nino Spataro, Pekka Kannus, Taryn Athey, Christina Peroutka, Caitlin Barnes, Richard Sidlow, George Anadiotis, Kari Magnussen, Irene Valenzuela, Alejandro Moles‐Fernández, Seth Berger, Christina Grant, Éric Vilain, Gudny A. Arnadottir, Patrick Sulem, Telma Sulem, Kāri Stefánsson, Shavonne L. Massey, Natalie Ginn, Annapurna Poduri, Alissa M. D’Gama, Rozalia Valentine, Sara Trowbridge, Chaya N. Murali, Rachel Franciskovich, Thi Hai Yen Tran, Bryn D. Webb, Kim M. Keppler‐Noreuil, April Hall, Bobbi McGivern, Kristin G. Monaghan, Maria J. Guillen Sacoto, Dustin Baldridge, Gary A. Silverman, Sonika Dahiya, Tychele N. Turner, Tim Schedl, Jackie D. Corbin, Stephen C. Pak, Irene E. Zohn, Christina A. Gurnett
出版 2025Artigo -
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Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome 由 David A. Dyment, Anne O’Donnell‐Luria, Pankaj B. Agrawal, Zeynep Coban‐Akdemir, Kyrieckos A. Aleck, Danny Antaki, Hind Al Sharhan, Ping Yee Billie Au, Hatip Aydın, Alan H. Beggs, Kaya Bilgüvar, Eric Boerwinkle, Harrison Brand, Catherine A. Brownstein, Steven Buyske, Bernard Chodirker, Jungmin Choi, Albert E. Chudley, Carol L. Clericuzio, Gerald F. Cox, Cynthia J. Curry, Elke de Boer, Bert B.A. de Vries, Kathryn Dunn, Cullen M. Dutmer, Eleina England, Jill A. Fahrner, Bilgen Bilge Geçkinli, Casie A. Genetti, Alper Gezdirici, William T. Gibson, Joseph G. Gleeson, Cheryl R. Greenberg, April Hall, Ada Hamosh, Taila Hartley, Shalini N. Jhangiani, Ender Karaca, Kristin D. Kernohan, Julie Lauzon, M. E. Suzanne Lewis, R. Brian Lowry, Francesc López‐Giráldez, Tara C. Matise, Jennifer McEvoy‐Venneri, Brenda McInnes, Aziz Mhanni, Sixto García Miñaúr, Jukka S. Moilanen, An Nguyen, Małgorzata J.M. Nowaczyk, Jennifer E. Posey, Katrin Õunap, Davut Pehli̇van, Sander Pajusalu, Lynette S. Penney, Timothy Poterba, Paolo Prontera, Maria Juliana Rodovalho Doriqui, Sarah L. Sawyer, Nara Sobreira, Valentina Stanley, Deniz Torun, David S. Wargowski, P. Dane Witmer, Isaac Wong, Jinchuan Xing, Maha S. Zaki, Yeting Zhang, Kym M. Boycott, Michael J. Bamshad, Deborah A. Nickerson, Elizabeth Blue, A. Micheil Innes
出版 2020Artigo
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