Ghosh, Shereen G ;
Becker, Kerstin ;
Huang, He...
Ghosh , S G , Becker , K , Huang , H , Dixon-Salazar , T , Chai , G , Salpietro , V , Al-Gazali , L , Waisfisz , Q , Wang , H , Vaux , K K , Stanley , V , Manole , A , Akpulat , U , Weiss , M M , Efthymiou , S , Hanna , M G , Minetti , C , Striano , P , Pisciotta , L , de Grandis , E , Altmüller , J , Nürnberg , P , Thiele , H , Yis , U , Okur , T D , Polat , A I , Amiri , N , Doosti , M , Karimani , E G , Toosi , M B , Haddad , G , Karakaya , M , Wirth , B , van Hagen , J M , Wolf , N I , Maroofian , R , Houlden , H , Cirak , S & Gleeson , J G 2018 , ' Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome ' , American journal of human genetics , vol. 103 , no. 3 , pp. 431-439 . https://doi.org/10.1016/j.ajhg.2018.07.010.
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2018
