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De Novo Pathogenic Variants in CACNA1E Cause Developmental ..:
Helbig, Katherine L
;
Lauerer, Robert J
;
Bahr, Jacqueline C
...
qt2061z9kg. , 2018
Link:
https://escholarship.org/uc/item/2061z9kg
RT Journal T1
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
UL https://suche.suub.uni-bremen.de/peid=base-ftcdlib:oai:escholarship.org:ark:_13030_qt2061z9kg&Exemplar=1&LAN=DE A1 Helbig, Katherine L A1 Lauerer, Robert J A1 Bahr, Jacqueline C A1 Souza, Ivana A A1 Myers, Candace T A1 Uysal, Betül A1 Schwarz, Niklas A1 Gandini, Maria A A1 Huang, Sun A1 Keren, Boris A1 Mignot, Cyril A1 Afenjar, Alexandra A1 de Villemeur, Thierry Billette A1 Héron, Delphine A1 Nava, Caroline A1 Valence, Stéphanie A1 Buratti, Julien A1 Fagerberg, Christina R A1 Soerensen, Kristina P A1 Kibaek, Maria A1 Kamsteeg, Erik-Jan A1 Koolen, David A A1 Gunning, Boudewijn A1 Schelhaas, H Jurgen A1 Kruer, Michael C A1 Fox, Jordana A1 Bakhtiari, Somayeh A1 Jarrar, Randa A1 Padilla-Lopez, Sergio A1 Lindstrom, Kristin A1 Jin, Sheng Chih A1 Zeng, Xue A1 Bilguvar, Kaya A1 Papavasileiou, Antigone A1 Xing, Qinghe A1 Zhu, Changlian A1 Boysen, Katja A1 Vairo, Filippo A1 Lanpher, Brendan C A1 Klee, Eric W A1 Tillema, Jan-Mendelt A1 Payne, Eric T A1 Cousin, Margot A A1 Kruisselbrink, Teresa M A1 Wick, Myra J A1 Baker, Joshua A1 Haan, Eric A1 Smith, Nicholas A1 Sadeghpour, Azita A1 Davis, Erica E A1 Katsanis, Nicholas A1 Genomics, Task Force for Neonatal A1 Allori, Alexander A1 Angrist, Misha A1 Ashley, Patricia A1 Bidegain, Margarita A1 Boyd, Brita A1 Chambers, Eileen A1 Cope, Heidi A1 Cotten, C Michael A1 Curington, Theresa A1 Ellestad, Sarah A1 Fisher, Kimberley A1 French, Amanda A1 Gallentine, William A1 Goldberg, Ronald A1 Hill, Kevin A1 Kansagra, Sujay A1 Katsanis, Sara A1 Kurtzberg, Joanne A1 Marcus, Jeffrey A1 McDonald, Marie A1 Mikati, Mohammed A1 Miller, Stephen A1 Murtha, Amy A1 Perilla, Yezmin A1 Pizoli, Carolyn A1 Purves, Todd A1 Ross, Sherry A1 Smith, Edward A1 Wiener, John A1 Corbett, Mark A A1 MacLennan, Alastair H A1 Gecz, Jozef A1 Biskup, Saskia A1 Goldmann, Eva A1 Rodan, Lance H A1 Kichula, Elizabeth A1 Segal, Eric A1 Jackson, Kelly E A1 Asamoah, Alexander A1 Dimmock, David A1 McCarrier, Julie A1 Botto, Lorenzo D A1 Filloux, Francis A1 Tvrdik, Tatiana A1 Cascino, Gregory D PB eScholarship, University of California YR 2018 K1 Medical Physiology K1 Biomedical and Clinical Sciences K1 Neurodegenerative K1 Brain Disorders K1 Neurosciences K1 Epilepsy K1 Pediatric K1 2.1 Biological and endogenous factors K1 Aetiology K1 Neurological K1 Adolescent K1 Adult K1 Calcium Channels K1 R-Type K1 Cation Transport Proteins K1 Child K1 Preschool K1 Contracture K1 Dyskinesias K1 Female K1 Genetic Variation K1 Humans K1 Infant K1 Male K1 Megalencephaly K1 Neurodevelopmental Disorders K1 Spasms K1 Infantile K1 Task Force for Neonatal Genomics K1 Deciphering Developmental Disorders Study K1 CACNA1E K1 ion channel K1 arthrogryposis K1 calcium channel K1 Biological Sciences K1 Medical and Health Sciences K1 Genetics & Heredity K1 Health sciences JF qt2061z9kg LK http://dx.doi.org/https://escholarship.org/uc/item/2061z9kg DO https://escholarship.org/uc/item/2061z9kg SF ELIB - SuUB Bremen
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