Lv5
1258 积分 2023-08-18 加入
Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis
1天前
待确认
Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis
1天前
待确认
Distinctive regional-specific PROS1 mutation spectrum in Southern China
8天前
已完结
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy
17天前
已完结
Pathogenicity analysis and functional prediction of a rare LDLR variant in familial hypercholesterolemia combined with Wilson disease
28天前
已完结
Hemizygous BTK Gene Variant Causing X-Linked Agammaglobulinemia in Two Siblings
29天前
已完结
Diagnostic yield from cardiac gene testing for inherited cardiac conditions and re-evaluation of pre-ACMG variants of uncertain significance
1个月前
已完结
The pervasive influence of conflicts of interest: a personal perspective
1个月前
已完结
The pervasive influence of conflicts of interest: a personal perspective
1个月前
已关闭
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)
2个月前
已完结
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