Jansen, Sandra ;
Hoischen, Alexander ;
Coe, Bradley P...
Jansen , S , Hoischen , A , Coe , B P , Carvill , G L , Van Esch , H , Bosch , D G M , Andersen , U A , Baker , C , Bauters , M , Bernier , R A , van Bon , B W , Claahsen-van der Grinten , H L , Gecz , J , Gilissen , C , Grillo , L , Hackett , A , Kleefstra , T , Koolen , D , Kvarnung , M , Larsen , M J , Marcelis , C , McKenzie , F , Monin , M-L , Nava , C , Schuurs-Hoeijmakers , J H , Pfundt , R , Steehouwer , M , Stevens , S J C , Stumpel , C T , Vansenne , F , Vinci , M , van de Vorst , M , de Vries , P , Witherspoon , K , Veltman , J A , Brunner , H G , Mefford , H C , Romano , C , Vissers , L E L M , Eichler , E E & de Vries , B B A 2018 , ' A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency ' , European Journal of Human Genetics , vol. 26 , no. 1 , pp. 54-63 . https://doi.org/10.1038/s41431-017-0039-5.
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