Lv5
1390 积分 2025-02-27 加入
Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders
2天前
已完结
Genetic mutations in ten unrelated American patients with symptomatic Type 1 protein C deficiency
3天前
已完结
[Phenotype and genetic mutation analysis of an inherited protein C deficiency pedigree]
3天前
已完结
Novel mutations and molecular pathways identified in patients with brain iron accumulation disorders
3天前
已完结
Germline mutation analysis ofhPMS2gene in Chinese families with hereditary nonpolyposis colorectal cancer
3天前
已完结
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China
4天前
已完结
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China
4天前
已完结
Clinical and ECG variables to predict the outcome of genetic testing in hypertrophic cardiomyopathy
9天前
已完结
[Clinical features of dilated cardiomyopathy-like hypertrophic cardiomyopathy caused by a 13261 G > A mutation in cardiac myosin-binding protein C gene]
10天前
已完结
Structural analysis of pathogenic TMPRSS3 variants and their cochlear implantation outcomes of sensorineural hearing loss
11天前
已完结
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