Zobrazeno 1 - 1
of 1
pro vyhledávání: '"Sehribani Ulusoy Oktay"'
Autor:
Laurine Perrin, Sha Tang, Brandon S. Guida, Tjitske Kleefstra, Marjolein H. Willemsen, Heather Stickney, Michael C. Kruer, Keri Ramsey, Heather C Mefford, Lynette G. Sadleir, Bobby P. C. Koeleman, Evelyn Sattlegger, Angela E. Lin, Sara A. Lewis, Marcello Scala, Sergio Padilla-Lopez, Luis O. Rohena, Joaquim Sa, Marie Laure Mathieu, Floor E. Jansen, Joy Y. Sebe, David W. Raible, Giorgio Casari, Gemma L. Carvill, Ingrid E. Scheffer, Paul A. Caruso, Robert Huether, Mariasavina Severino, Candace T. Myers, Eva H. Brilstra, Ashwin A. Bhandiwad, Katherine L. Helbig, Somayeh Bakhtiari, Sehribani Ulusoy Oktay, Gaetan Lesca, Vinodh Narayanan, Georgina Hollingsworth, Tyler N. Kruer, Christel Depienne, Valeria Capra, Pasquale Striano, Timothy Feyma, Deepak Gill, Andrea Accogli, Caroline Nava
Publikováno v:
Human Mutation, 41, 1263-1279
Hum Mutat
Human Mutation, 41, 7, pp. 1263-1279
Hum Mutat
Human Mutation, 41, 7, pp. 1263-1279
Heterozygous de novo variants in the eukaryotic elongation factor EEF1A2 have previously been described in association with intellectual disability and epilepsy but never functionally validated. Here we report 14 new individuals with heterozygous EEF
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e68c0ca7cd77205fa430c998b92475c
http://hdl.handle.net/2066/220053
http://hdl.handle.net/2066/220053
