Lv1
60 积分 2025-03-27 加入
ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature
17小时前
待确认
Natural history of Becker muscular dystrophy: DMD gene mutations predict clinical severity
2个月前
已完结
Retrospective analysis of persistent HyperCKemia with or without muscle weakness in a case series from Greece highlights vast DMD variant heterogeneity
2个月前
已完结
Hereditary leiomyomatosis and renal cell cancer (HLRCC): Case series and review of the literature
4个月前
已完结
Whole exome sequencing identified a novel homozygous ARV1 mutation in an Iranian family with developmental and epileptic encephalopathy-38
4个月前
已完结
Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting
4个月前
已完结
Whole exome sequencing identified a novel homozygous ARV1 mutation in an Iranian family with developmental and epileptic encephalopathy-38
4个月前
已完结
A novel mutation of the down-regulated in adenoma gene in a Japanese case with congential chloride diarrhea. Mutations in brief no. 198. Online
4个月前
已关闭
A clinical and genetic study of SPG31 in Japan
5个月前
已完结
Expansion of the mutation and phenotypic spectrum of hereditary spastic paraplegia
5个月前
已完结
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