Lv42
448 积分 2025-06-30 加入
Four cases of Chanarin‐Dorfman syndrome presenting with different types of erythrokeratoderma
17天前
已完结
Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome
1个月前
已关闭
[Usher type I syndrome in children: genotype/phenotype correlation and cochlear implant benefits]
1个月前
已关闭
Diagnosis of Duchenne dystrophy by enhanced detection of small mutations
3个月前
已完结
Molecular and clinical findings of Turkish patients with hereditary fructose intolerance
4个月前
已完结
Evaluation of the clinical, biochemical, genotype and prognosis ofmut-type methylmalonic acidemia in 365 Chinese cases
4个月前
已完结
Identification of two novel splice mutations of the ADAR1 gene in two Chinese families with dyschromatosis symmetrica hereditaria
5个月前
已完结
Targeted anti-interleukin-17 therapy for linear porokeratosis
5个月前
已完结