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Categorized Genetic Analysis in Childhood-Onset Cardiomyopathy.
Circ Genom Precis Med. 2020 Oct;13(5):504-514. doi: 10.1161/CIRCGEN.120.002969. Epub 2020 Sep 1.
Circ Genom Precis Med. 2020.
PMID: 32870709
Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability.
van Spronsen FJ, Himmelreich N, Rüfenacht V, Shen N, Vliet DV, Al-Owain M, Ramzan K, Alkhalifi SM, Lunsing RJ, Heiner-Fokkema RM, Rassi A, Gemperle-Britschgi C, Hoffmann GF, Blau N, Thöny B.
van Spronsen FJ, et al. Among authors: alkhalifi sm.
J Med Genet. 2017 Aug 9:jmedgenet-2017-104875. doi: 10.1136/jmedgenet-2017-104875. Online ahead of print.
J Med Genet. 2017.
PMID: 28794131
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