Lv3
398 积分 2024-10-16 加入
Twenty-two novel mutations in a Chinese cohort of 137 patients with porokeratosis were identified using microfluidics (Fluidigm)
1天前
待确认
Clinical, histological and molecular characteristics of Alport syndrome in Chinese children
1个月前
已关闭
Clinical, histological and molecular characteristics of Alport syndrome in Chinese children
1个月前
已完结
RNASEH2C c. 194G >A is a Chinese‐specific founder mutation in three unrelated patients with Aicardi‐Goutières syndrome 3
1个月前
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]
1个月前
已完结
Genetic Characterization of Kidney Failure of Unknown Etiology in Spain: Findings From the GENSEN Study
2个月前
已完结
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy
2个月前
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
3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
4个月前
已完结
Two novel GCK mutations in Chinese patients with maturity-onset diabetes of the young
4个月前
已完结
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