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The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Brain. 2023 Aug 1;146(8):3273-3288. doi: 10.1093/brain/awad039.
Brain. 2023.
PMID: 36757831
Free PMC article.
De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder.
Werren EA, Guxholli A, Jones N, Wagner M, Hannibal I, Granadillo JL, Tyndall AV, Moccia A, Kuehl R, Levandoski KM, Day-Salvatore DL, Wheeler M; University of Washington Center for Mendelian Genomics; Chong JX, Bamshad MJ, Innes AM, Pierson TM, Mackay JP, Bielas SL, Martin DM.
Werren EA, et al. Among authors: levandoski km.
HGG Adv. 2023 Apr 20;4(3):100198. doi: 10.1016/j.xhgg.2023.100198. eCollection 2023 Jul 13.
HGG Adv. 2023.
PMID: 37181331
Free PMC article.
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