Lv2
162 积分 2022-04-28 加入
Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature
1天前
已完结
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
2天前
已完结
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
2天前
已完结
Epidermolysis bullosa simplex with mottled pigmentation: Clinical aspects and confirmation of the P24L mutation in theKRT5 gene in further patients
3天前
已完结
The spectrum of FBN1, TGFβR1, TGFβR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys–Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD)
6天前
已完结
Clinical features and gene mutation analysis of patients with Alagille syndrome
7天前
已完结
[Gitelman syndrome in a child presenting with short stature]
8天前
已关闭
皖公网安备34019202002308
