Olson, Heather E ;
Jean-Marcais, Nolwenn ;
Yang, Edward...
Olson , H E , Jean-Marcais , N , Yang , E , Heron , D , Tatton-Brown , K , van der Zwaag , P A , Bijlsma , E K , Krock , B L , Backer , E , Kamsteeg , E-J , Sinnema , M , Reijnders , M R F , Bearden , D , Begtrup , A , Telegrafi , A , Lunsing , R J , Burglen , L , Lesca , G , Cho , M T , Smith , L A , Sheidley , B R , El Achkar , C M , Pearl , P L , Poduri , A , Skraban , C M , Tarpinian , J , Nesbitt , A I , van de Putte , D E F , Ruivenkamp , C A L , Rump , P , Chatron , N , Sabatier , I , De Bellescize , J , Guibaud , L , Sweetser , D A , Waxler , J L , Wierenga , K J , Donadieu , J , Narayanan , V , Ramsey , K M , Nava , C , Riviere , J-B , Vitobello , A , Mau-Them , F T , Philippe , C , Bruel , A-L , Duffourd , Y , Thomas , L , Lelieveld , S H , Brunner , H G , DDD Study; C4RCD Res Grp & Thauvin-Robinet , C 2018 , ' A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebell....
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2018
