Lv5
884 积分 2024-08-07 加入
RNASEH2C c. 194G >A is a Chinese‐specific founder mutation in three unrelated patients with Aicardi‐Goutières syndrome 3
9小时前
已完结
Non-syndromic perspective on a unique progressive familial intrahepatic cholestasis variant: ZFYVE19 mutation
14小时前
已关闭
Genetic etiology of agenesis of the corpus callosum: a retrospective single-center cohort analysis of 114 fetuses
2天前
已完结
A novel case of Al Kaissi syndrome in a 4-year-old boy: increasing significance of hydrocephalus and extending the phenotype
7天前
已完结
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy
7天前
已关闭
High incidence of EDNRB gene mutation in seven southern Chinese familial cases with Hirschsprung’s disease
11天前
已完结
Identification of 8 Rare Deleterious Variants in ADAMTS13 by Next-generation Sequencing in a Chinese Population with Thrombotic Thrombocytopenic Purpura
11天前
已完结
PPP2R1A neurodevelopmental disorder is associated with congenital heart defects
12天前
已完结
Targeted next generation sequencing for the diagnosis of patients with rare congenital anemias
19天前
已关闭
Mechanosensitive Piezo1 ion channel protein (PIEZO1 gene): update and extended mutation analysis of hereditary xerocytosis in India
19天前
已完结
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