Lv2
140 积分 2023-01-07 加入
Newborn screening for mucopolysaccharidosis type II: Lessons learned
18小时前
已完结
Heterogeneous spectrum of mutations in CFTR gene from Indian patients with congenital absence of the vas deferens and their association with cystic fibrosis genetic modifiers
4天前
已完结
Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature
12天前
已完结
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility
19天前
已完结
Three new cases of asparagine synthetase deficiency: Confirmation of a poor neurological outcome and a new molecular mechanism
2个月前
已完结
Two Japanese cases with aspartylglycosaminuria: clinical and morphological features
2个月前
已完结
[Molecular analysis of the aspartylglucosaminidase gene in Japanese patients with aspartylglucosaminuria]
2个月前
已关闭
Leigh Syndrome: A Study of 209 Patients at the Beijing Children's Hospital
2个月前
已完结
A novel mutation in hERG gene associated with azithromycin-induced acquired long QT syndrome
3个月前
已完结
Biallelic DNAH9 mutations are identified in Chinese patients with defective left–right patterning and cilia-related complex congenital heart disease
5个月前
已完结
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