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29. Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With SMCHD1 Variants. Mohassel P, Chang N, Inoue K, Delaney A, Hu Y, Donkervoort S, Saade D, Billioux BJ, Meader B, Volochayev R, Konersman CG, Kaindl AM, Cho CH, Russell B, Rodriguez A, Foster KW, Foley AR, Moore SA, Jones PL, Bonnemann CG, Jones T, Shaw ND. Neurology; 2022 Mar 29; 98(13):e1384-e1396. PubMed ID: 35121673 [Abstract] [Full Text] [Related]
30. PAX7 target gene repression is a superior FSHD biomarker than DUX4 target gene activation, associating with pathological severity and identifying FSHD at the single-cell level. Banerji CRS, Zammit PS. Hum Mol Genet; 2019 Jul 01; 28(13):2224-2236. PubMed ID: 31067297 [Abstract] [Full Text] [Related]
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