Lv42
408 积分 2025-02-13 加入
Target capture next-generation sequencing in non-inversion haemophilia: an alternative approach
38分钟前
待确认
Sekundäre Gicht und Pseudo-Bartter-Syndrom bei Frauen mit Laxantienabusus
1天前
已完结
X-linked adrenoleukodystrophy in women: a cross-sectional cohort study
24天前
已完结
Novel human pathological mutations. Gene symbol: GAA. Disease: glycogen storage disease 2
29天前
已完结
[Heterogeneous mutations of Wolfram syndrome I gene responsible for low frequency nonsyndromic hearing loss]
1个月前
已关闭
Targeted next-generation sequencing identifies novel deleterious variants in ANK1 gene causing severe hereditary spherocytosis in Indian patients: expanding the molecular and clinical spectrum
1个月前
已完结
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy
1个月前
已关闭
[Molecular analysis of two pedigrees with inherited coagulation factor VII deficiency]
2个月前
已关闭
[Molecular analysis of two pedigrees with inherited coagulation factor VII deficiency]
2个月前
已关闭
Clinical and genetic analysis in a large Chinese cohort of patients with X-linked hypophosphatemia
2个月前
已完结