Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15

Cheng, Hanyin ; Gottlieb, Leah ; Marchi, Elaine ; Kleyner, Robert ; Bhardwaj, Puja ; Rope, Alan F ; Rosenheck, Sarah ; Moutton, Sébastien ; Philippe, Christophe ; Eyaid, Wafaa ; Alkuraya, Fowzan S ; Toribio, Janet ; Mena, Rafael ; Prada, Carlos E ; Stessman, Holly ; Bernier, Raphael ; Wermuth, Marieke ; Kauffmann, Birgit ; Blaumeiser, Bettina ; Kooy, R Frank ; Baralle, Diana ; Mancini, Grazia M S ; Conway, Simon J ; Xia, Fan ; Chen, Zhao ; Meng, Linyan ; Mihajlovic, Ljubisa ; Marmorstein, Ronen ; Lyon, Gholson J

Human molecular genetics, 2019-09, Vol.28 (17), p.2900-2919 [Periódico revisado por pares]

England: Oxford University Press

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