Lv11
10 积分 2025-03-27 加入
The smallest dislocated microduplication of Xq27.1 harboring SOX3 gene associated with XX male phenotype
7小时前
待确认
A SOX3 duplication and lumbosacral spina bifida in three generations
7小时前
已完结
ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature
10个月前
已完结
Natural history of Becker muscular dystrophy: DMD gene mutations predict clinical severity
1年前
已完结
Retrospective analysis of persistent HyperCKemia with or without muscle weakness in a case series from Greece highlights vast DMD variant heterogeneity
1年前
已完结
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