de Boer, Elke ;
Ockeloen, Charlotte W ;
Kampen, Rosalie A...
de Boer , E , Ockeloen , C W , Kampen , R A , Hampstead , J E , Dingemans , A J M , Rots , D , Lütje , L , Ashraf , T , Baker , R , Barat-Houari , M , Angle , B , Chatron , N , Denommé-Pichon , A S , Devinsky , O , Dubourg , C , Elmslie , F , Elloumi , H Z , Faivre , L , Fitzgerald-Butt , S , Geneviève , D , Goos , J A C , Helm , B M , Kini , U , Lasa-Aranzasti , A , Lesca , G , Lynch , S A , Mathijssen , I M J , McGowan , R , Monaghan , K G , Odent , S , Pfundt , R , Putoux , A , van Reeuwijk , J , Santen , G W E , Sasaki , E , Sorlin , A , van der Spek , P J , Stegmann , A P A , Swagemakers , S M A , Valenzuela , I , Viora-Dupont , E , Vitobello , A , Ware , S M , Wéber , M , Gilissen , C , Low , K J , Fisher , S E , Vissers , L E L M , Wong , M M K & Kleefstra , T 2022 , ' Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein ' , Genetics in Medicine , vol. 24 , no. 10 , pp. ....
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2022
