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30 积分 2022-11-09 加入
[Cilia ultrastructural and gene variation of primary ciliary dyskinesia: report of three cases and literatures review]
8天前
已完结
Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation‐positive patients
12天前
已完结
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China
23天前
已完结
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China
23天前
已完结
Rising of LOXHD1 as a signature causative gene of down-sloping hearing loss in people in their teens and 20s
25天前
已完结
SQSTM1/p62 variants in 486 patients with familial ALS from Germany and Sweden
25天前
已完结
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases
1个月前
已完结
Genetic analysis of isolated methylmalonic acidemia in Henan, China: c.1663G>A variant of MMUT prevalent in the Henan population
1个月前
已完结
The prevalence of GALM mutations that cause galactosemia: A database of functionally evaluated variants
1个月前
已完结
The prevalence of GALM mutations that cause galactosemia: A database of functionally evaluated variants
1个月前
已完结
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