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OALib Journal期刊
ISSN: 2333-9721
费用：99美元
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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
DOI: 10.1016/j.ajhg.2019.02.015
Adam Zeman, Alastair H. MacLennan, Alba Sanchis-Juan, Alexander Asamoah, Alexander Rotenberg, Alexandra Afenjar, Annapurna Poduri, Antigone Papavasileiou, Azita Sadeghpour, Betül Uysal, Boris Keren, Boudewijn Gunning, Brendan C. Lanpher, Britt-Marie Anderlid, Bronwyn Kerr, Candace T. Myers, Caroline Nava, Catherine Neumann, Changlian Zhu, Christelle M. El Achkar, Christina R. Fagerberg, Cyril Mignot, David A. Koolen, David Dimmock, Deciphering Developmental Disorders Study, Delphine Héron, Elizabeth Kichula, Eric Haan, Eric Segal, Eric T. Payne, Eric W. Klee, Erica E. Davis, Erik-Jan Kamsteeg, Eva Goldmann, F. Lucy Raymond, Filippo Vairo, Francis Filloux, Gabriel Kringlen, Gerald W. Zamponi, Gregory D. Cascino, H. Jurgen Schelhaas, Holger Lerche, Imelda Hughes, Ingo Helbig, Ingrid E. Scheffer, Ivana A. Souza, Jacqueline C. Bahr, Jan-Mendelt Tillema, Jennifer Leonhard, Jessie C. Jacobsen, Jill Urquhart, Jordana Fox, Joshua Baker, Jozef Gecz, Julia Rankin, Julie McCarrier, Julien Buratti, Kari Casas, Karla Ruiz, Katherine L. Helbig, Katja Boysen, Kaya Bilguvar, Kelly E. Jackson, Keren J. Carss, Klaus Lehnert, Kristin Lindstrom, Kristina P. Soerensen, Lacey A. Smith, Lance H. Rodan, Lorenzo D. Botto, Lynette G. Sadleir, Malin Kvarnung, Margot A. Cousin, Maria A. Gandini, Maria Kibaek, Mark A. Corbett, Melinda A. Nolan, Michael C. Kruer, Michael J. Friez, Michael J. Lyons, Moira Blyth, Myra J. Wick, Nicholas Katsanis, Nicholas Smith, Niklas Schwarz, Qinghe Xing, Randa Jarrar, Raymond Wang, Renzo Guerrini, Robert J. Lauerer, Russell G. Snell, Saskia Biskup
Abstract:
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