Balasubramanian, M ;
Willoughby, J ;
Fry, A. E...
Balasubramanian , M , Willoughby , J , Fry , A E , Weber , A , Firth , H V , Deshpande , C , Berg , J N , Chandler , K , Metcalfe , K A , Lam , W , Pilz , D , Tomkins , S & DDD Study 2017 , ' Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome : 12 new patients with de novo , heterozygous, loss-of-function mutations in ASXL3 and review of published literature ' Journal of Medical Genetics . DOI:10.1136/jmedgenet-2016-104360.
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2017