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40 积分 2024-08-14 加入
Biallelic DNAH9 mutations are identified in Chinese patients with defective left–right patterning and cilia-related complex congenital heart disease
15小时前
已完结
Clinical exome sequencing identifies novel compound heterozygous mutations of the POMT2 gene in patients with limb‐girdle muscular dystrophy
18天前
已完结
A recurrent p.M157R mutation of keratin 9 gene in a Chinese family with epidermolytic palmoplantar keratoderma and literature review
20天前
已完结
Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss
21天前
已完结
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency in Zhejiang province, China
22天前
已完结
Biochemical and structural impact of two novel missense mutations in cystathionine β-synthase gene associated with homocystinuria
25天前
已完结
[Analysis of clinical phenotypes and ATP7B gene variants in 75 children patients with Wilson' s disease]
25天前
已完结
Broad spectrum of phenotype and genotype in Korean α-dystroglycan related muscular dystrophy presenting to a tertiary pediatric neuromuscular center
1个月前
已完结
HOGA1 variants in Chinese patients with primary hyperoxaluria type 3: genetic features and genotype–phenotype relationships
1个月前
已完结
Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy
2个月前
已完结
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