Хайлтын үр дүнгүүд - Francis Filloux

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    De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias Katherine L. Helbig, Robert J. Lauerer, Jacqueline C Bahr, Ivana A. Souza, Candace T. Myers, Betül Seher Uysal, Niklas Schwarz, María A. Gandini, Sun Huang, Boris Keren, Cyril Mignot, Alexandra Afenjar, Thierry Billette de Villemeur, Delphine Héron, Caroline Nava, Stéphanie Valence, Julien Buratti, Christina Fagerberg, Kristina P. Soerensen, Maria Kibæk, Erik‐Jan Kamsteeg, David A. Koolen, Boudewijn Gunning, Helenius J. Schelhaas, Michael C. Kruer, Jordana Fox, Somayeh Bakhtiari, Randa Jarrar, Sergio Padilla-López, Kristin Lindstrom, Sheng Chih Jin, Xue Zeng, Kaya Bilgüvar, Antigone Papavasileiou, Qinghe Xing, Changlian Zhu, Katja Boysen, Filippo Pinto e Vairo, Brendan C. Lanpher, Eric W. Klee, Jan‐Mendelt Tillema, Eric T. Payne, Margot A. Cousin, Teresa Kruisselbrink, Myra J. Wick, Joshua Baker, Eric Haan, Nicholas Smith, Azita Sadeghpour, Erica E. Davis, Nicholas Katsanis, Mark Corbett, Alastair H. MacLennan, Jozef Gécz, Saskia Biskup, Eva Goldmann, Lance H. Rodan, Elizabeth Kichula, Eric Segal, Kelly E. Jackson, Alexander Asamoah, David Dimmock, Julie McCarrier, Lorenzo D. Botto, Francis Filloux, Tatiana Tvrdik, Gregory D. Cascino, Sherry Klingerman, Catherine M. Neumann, Raymond Wang, Jessie C. Jacobsen, Melinda Nolan, Russell G. Snell, Klaus Lehnert, Lynette G. Sadleir, Britt‐Marie Anderlid, Malin Kvarnung, Renzo Guerrini, Michael J. Friez, Michael J. Lyons, Jennifer Leonhard, Gabriel Kringlen, Kari Casas, Christelle Moufawad El Achkar, Lacey Smith, Alexander Rotenberg, Annapurna Poduri, Alba Sanchis‐Juan, Keren Carss, Julia Rankin, Adam Zeman, F. Lucy Raymond, Moira Blyth, Bronwyn Kerr, Karla Ruiz, Jill Urquhart, Imelda Hughes, Siddharth Banka, Ulrike B. S. Hedrich, Ingrid E. Scheffer

    Хэвлэсэн 2018
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    Artigo
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    Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice Dianalee McKnight, Ana Morales, Kathryn E. Hatchell, Sara L. Bristow, Joshua L. Bonkowsky, Μ. Scott Perry, Anne T. Berg, Felippe Borlot, Edward D. Esplin, Chad Moretz, Katie Angione, Loreto Ríos‐Pohl, Robert L. Nussbaum, Swaroop Aradhya, Chad R. Haldeman‐Englert, Rebecca J. Levy, Venu Parachuri, Guillermo Lay‐Son, David José Dávila‐Ortiz de Montellano, Miguel Ángel Ramírez-García, Edmar Benitez-Alonso, Julie Ziobro, Adela Chiriţă-Emandi, Têmis Maria Félix, Dianne Kulasa-Luke, André Mégarbané, Shefali Karkare, Sarah Chagnon, Jennifer Humberson, Melissa Assaf, Sebastián Silva, Katherine Zarroli, Oksana Boyarchuk, Gary R. Nelson, Rachel Palmquist, Katherine C. Hammond, Sean Hwang, Susan B. Boutlier, Melinda Nolan, Kaitlin Batley, Devraj Chavda, Carlos Alberto Reyes-Silva, О.О. Miroshnikov, Britton Zuccarelli, Louise Amlie‐Wolf, James W. Wheless, Syndi Seinfeld, Manoj Kanhangad, Jeremy L. Freeman, Susana Monroy, Natalia Rodriguez-Vazquez, Monique M. Ryan, Michelle Machie, Patricio Guerra, Muhammad Jawad Hassan, Meghan Candee, Caleb Bupp, Kristen Park, Eric Muller, Pamela J. Lupo, Robert C. Pedersen, Amir Arain, Andrea Murphy, Krista Schatz, Weiyi Mu, Paige M. Kalika, Lautaro Plaza, Marissa Kellogg, Evelyn G. Lora, Robert P. Carson, V.O. Svystilnyk, Viviana Venegas, Rebecca R. Luke, Huiyuan Jiang, T. Stetsenko, Milagros Dueñas, Joseph Trasmonte, Rebecca Burke, Anna Hurst, Douglas M. Smith, Lauren Massingham, Laura Rosa Pisani, Carrie E. Costin, Betsy Ostrander, Francis Filloux, Amitha Ananth, Ismail Mohamed, Alla Nechai, Jasmin M. Dao, Michael Fahey, Ermal Aliu, Stephen Falchek, Craig A. Press, Lauren Treat, Krista Eschbach, Angela M. Starks, Ryan Kammeyer, Joshua J. Bear, Mona Jacobson, Veronika Chernuha

    Хэвлэсэн 2022
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    Artigo