Johnstone, Devon L ;
Nguyen, Thi Tuyet Mai ;
Zambonin, Jessica...
Johnstone , D L , Nguyen , T T M , Zambonin , J , Kernohan , K D , St-Denis , A , Baratang , N V , Hartley , T , Geraghty , M T , Richer , J , Majewski , J , Bareke , E , Guerin , A , Pendziwiat , M , Pena , L D M , Braakman , H M H , Grip , K W , Edmondson , A C , He , M , Spillmann , R C , Eklund , E A , Bayat , A , Network , U D , McMillan , H J , Boycott , K M , Campeau , P M & Care4Rare Canada Consortium 2020 , ' Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ : Report of seven new subjects and review of the literature ' , Journal of Inherited Metabolic Disease , vol. 43 , no. 6 , pp. 1321-1332 . https://doi.org/10.1002/jimd.12278.
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2020
