Jansen, Sandra ;
Geuer, Sinje ;
Pfundt, Rolph...
Jansen , S , Geuer , S , Pfundt , R , Brough , R , Ghongane , P , Herkert , J C , Marco , E J , Willemsen , M H , Kleefstra , T , Hannibal , M , Shieh , J T , Lynch , S A , Flinter , F , FitzPatrick , D R , Gardham , A , Bernhard , B , Ragge , N , Newbury-Ecob , R , Bernier , R , Kvarnung , M , Magnusson , E A H , Wessels , M W , van Slegtenhorst , M A , Monaghan , K G , de Vries , P , Veltman , J A , Lord , C J , Vissers , L E L M , de Vries , B B A & Deciphering Dev Disorders Study 2017 , ' De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome ' , American Journal of Human Genetics , vol. 100 , no. 4 , pp. 650-658 . https://doi.org/10.1016/j.ajhg.2017.02.005.
,
2017
