Lv3
238 积分 2024-02-07 加入
Heimler syndrome with a complaint of blurred vision caused by compound heterozygous variants in PEX1
6天前
已完结
[Clinical report and genetic analysis of a child with Aicardi-Goutières syndrome type 3 due to compound heterozygous variants of RNASEH2C gene]
9天前
已完结
RNASEH2C c.194G>A is a Chinese‐specific founder mutation in three unrelated patients with Aicardi‐Goutières syndrome 3
9天前
已完结
High incidence of hypertension-mediated organ damage in a series of Chinese patients with 17α-hydroxylase deficiency
29天前
已完结
Frequency of pathogenic germline mutations in cancer susceptibility genes in breast cancer patients
1个月前
已完结
Comprehensive profiling of BRCA1 and BRCA2 variants in breast and ovarian cancer in Chinese patients
1个月前
已完结
Frequency of germline genetic variants in women with a personal or family history of breast cancer from Brazil
1个月前
已完结
High frequency of pathogenic and rare sequence variants in diabetes-related genes among Russian patients with diabetes in pregnancy
1个月前
已完结
Targeted Next-Generation Sequencing Effectively Analyzed the Cystic Fibrosis Transmembrane Conductance Regulator Gene in Pancreatitis
1个月前
已完结
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