Lv31
320 积分 2021-12-03 加入
Mutational spectrum of HBD gene in the Chinese population: Description of 36 mutations including 11 novel variants
1小时前
待确认
Developmental disorder and spastic paraparesis in two sisters with a TCF7L2 truncating variant inherited from a mosaic mother
5天前
已完结
Chloride Channel 7 (ClCN7) Gene Mutations and Autosomal Dominant Osteopetrosis, Type II
14天前
已关闭
Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADOII) and intermediate autosomal recessive osteopetrosis (ARO) in seven Chinese families
14天前
已完结
Genetic Characterization of Kidney Failure of Unknown Etiology in Spain: Findings From the GENSEN Study
19天前
已完结
Genetic Characterization of Kidney Failure of Unknown Etiology in Spain: Findings From the GENSEN Study
19天前
已完结
Role of genetic investigation in the diagnosis of short stature in a cohort of Italian children
28天前
已完结
Targeted next‐generation sequencing in a large series of fetuses with severe renal diseases
2个月前
已完结
Clinical exome sequencing findings in 1589 patients
2个月前
已关闭
Clinical exome sequencing findings in 1589 patients
2个月前
已完结
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