Johnstone, Devon L ;
Al-Shekaili, Hilal H ;
Tarailo-Graovac, Maja...
Care4Rare Canada Consortium , Johnstone , D L , Al-Shekaili , H H , Tarailo-Graovac , M , Wolf , N I , Ivy , A S , Demarest , S , Roussel , Y , Ciapaite , J , van Roermund , C W T , Kernohan , K D , Kosuta , C , Ban , K , Ito , Y , McBride , S , Al-Thihli , K , Abdelrahim , R A , Koul , R , Al Futaisi , A , Haaxma , C A , Olson , H , Sigurdardottir , L Y , Arnold , G L , Gerkes , E H , Boon , M , Heiner-Fokkema , M R , Noble , S , Bosma , M , Jans , J , Koolen , D A , Kamsteeg , E-J , Drögemöller , B , Ross , C J , Majewski , J , Cho , M T , Begtrup , A , Wasserman , W W , Bui , T , Brimble , E , Violante , S , Houten , S M , Wevers , R A , van Faassen , M , Kema , I P , Lepage , N , Lines , M A , Dyment , D A , Wanders , R J A , Verhoeven-Duif , N , Ekker , M & Boycott , K M 2019 , ' PLPHP deficiency : clinical, genetic, biochemical, and mechanistic insights ' , Brain , vol. 142 , pp. 542-559 . https://doi.org/10.1093/brain/awy346 ; ISSN:0006-8950.
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2019
