Lv12
46 积分 2025-03-21 加入
Retrospective analysis of persistent HyperCKemia with or without muscle weakness in a case series from Greece highlights vast DMD variant heterogeneity
1天前
待确认
Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma
27天前
已关闭
Mutation spectrum and genotype–phenotype correlations in 157 Korean CADASIL patients: a multicenter study
27天前
已完结
Mutation spectrum and genotype-phenotype correlations in 157 Korean CADASIL patients: a multicenter study
27天前
已完结
Distinct neurological phenotypes associated with biallelic loss of NOTCH3 function: evidence for recessive inheritance
27天前
已完结
New insights from unbiased panel and whole-exome sequencing in a large Chinese cohort with disorders of sex development
1个月前
已完结
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