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1420 积分 2025-02-27 加入
RECQL4-related Rothmund-Thomson syndrome: A case series and literature review
1天前
待确认
Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders
8天前
已完结
Genetic mutations in ten unrelated American patients with symptomatic Type 1 protein C deficiency
9天前
已完结
[Phenotype and genetic mutation analysis of an inherited protein C deficiency pedigree]
9天前
已完结
Novel mutations and molecular pathways identified in patients with brain iron accumulation disorders
9天前
已完结
Germline mutation analysis ofhPMS2gene in Chinese families with hereditary nonpolyposis colorectal cancer
9天前
已完结
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China
10天前
已完结
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China
10天前
已完结
Clinical and ECG variables to predict the outcome of genetic testing in hypertrophic cardiomyopathy
15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]
16天前
已完结
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