Lv31
380 积分 2024-10-16 加入
RNASEH2C c. 194G >A is a Chinese‐specific founder mutation in three unrelated patients with Aicardi‐Goutières syndrome 3
5小时前
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]
5小时前
已完结
Genetic Characterization of Kidney Failure of Unknown Etiology in Spain: Findings From the GENSEN Study
13天前
已完结
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy
18天前
已关闭
Clinical features and genetic defect in six index patients with congenital fibrinogen disorders: Three novel mutations with one common mutation in Taiwan's population
1个月前
已完结
Splice‐site variant in the RPS7 5′‐UTR leads to a decrease in the mRNA level and development of Diamond‐Blackfan anemia
2个月前
已完结
Two novel GCK mutations in Chinese patients with maturity-onset diabetes of the young
2个月前
已完结
Genetic predisposition to cancer across people of different ancestries in Qatar: a population-based, cohort study
3个月前
已完结
SOX17-Associated Pulmonary Hypertension in Children: A Distinct Developmental and Clinical Syndrome
3个月前
已完结
Establishment of an induced pluripotent stem cell (iPSC) line SDQLCHi045-A from peripheral blood mononuclear cells of a patient with Coffin-Siris syndrome 1 carrying a mutation in ARID1B gene
4个月前
已完结
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