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An autosomal dominant neurological disorder caused by de no..:

Ferdinandusse, Sacha ; McWalter, Kirsty ; te Brinke, Heleen...
Ferdinandusse , S , McWalter , K , te Brinke , H , IJlst , L , Mooijer , P M , Ruiter , J P N , van Lint , A E M , Pras-Raves , M , Wever , E , Millan , F , Guillen Sacoto , M J , Begtrup , A , Tarnopolsky , M , Brady , L , Ladda , R L , Sell , S L , Nowak , C B , Douglas , J , Tian , C , Ulm , E , Perlman , S , Drack , A V , Chong , K , Martin , N , Brault , J , Brokamp , E , Toro , C , Gahl , W A , Macnamara , E F , Wolfe , L A , Alejandro , M E , Azamian , M S , Bacino , C A , Balasubramanyam , A , Burrage , L C , Chao , H T , Clark , G D , Craigen , W J , Dai , H , Dhar , S U , Emrick , L T , Goldman , A M , Hanchard , N A , Jamal , F , Karaviti , L , Lalani , S R , Lee , B H , Lewis , R A , Marom , R , Moretti , P , Murdock , D R , Nicholas , S K , Orengo , J P , Posey , J E , Potocki , L , Rosenfeld , J A , Samson , S L , Scott , D A , Tran , A A , Vogel , T P , Wangler , M F , Yamamoto , S , Eng , C M , Liu , P , Ward , P A , Behrens , E , Deardorff , M , Falk , M ,....  , 2020