Lv11
20 积分 2025-08-27 加入
Clinical, genetic, and pathological characterization of GNE myopathy in China
6天前
已完结
[Genetic variant analysis and prenatal diagnosis for Chinese pedigrees affected with cblC methylmalonic acidemia]
11天前
已完结
Clinical, histological and molecular characteristics of Alport syndrome in Chinese children
17天前
已完结
Genotype–phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India
19天前
已完结
Whole exome sequencing reveal 83 novel Mendelian disorders carrier P/LP variants in Chinese adult patients
19天前
已完结
Widening the mutation spectrum ofEVCandEVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts hedgehog signaling
20天前
已完结
Diagnostic and clinical utility of genetic testing in children with kidney failure
23天前
已完结
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