ProfileOfResearchers

TÃTULO: Damaging de novo missense variants inEEF1A2lead to a developmental and degenerative epileptic-dyskinetic encephalopathy Full Text
AUTORES: Gemma L Carvill; Katherine L Helbig; Candace T Myers; Marcello Scala; Robert Huether; Sara Lewis; Tyler N Kruer; Brandon S Guida; Somayeh Bakhtiari; Joy Sebe; Sha Tang; Heather Stickney; Sehribani Ulusoy Oktay; Ashwin A Bhandiwad; Keri Ramsey; Vinodh Narayanan; Timothy Feyma; Luis O Rohena; Andrea Accogli; Mariasavina Severino; Georgina Hollingsworth; Deepak Gill; Christel Depienne; Caroline Nava; Lynette G Sadleir; Paul A Caruso; Angela E Lin ; Floor E Jansen; Bobby Koeleman; Eva Brilstra; Marjolein H Willemsen; Tjitske Kleefstra; Joaquim Sa; Marie Laure Mathieu; Laurine Perrin; Gaetan Lesca; Pasquale Striano; Giorgio Casari; Ingrid E Scheffer; David Raible; Evelyn Sattlegger; Valeria Capra; Sergio Padilla Lopez; Heather C Mefford; Michael C Kruer; ...Mais
PUBLICAÇÃO: 2020, FONTE: HUMAN MUTATION, VOLUME: 41, NÚMERO: 7

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