Lv1
20 积分 2024-09-26 加入
Genetic analysis of 76 Spanish Pompe disease patients: Identification of 12 novel pathogenic GAA variants and functional characterization of splicing variants
1天前
已完结
Mucopolysaccharidosis IVA mutations in Chinese patients: 16 novel mutations
2天前
已完结
Genetic diagnosis of a family with primary ovarian insufficiency
3天前
已完结
Compound heterozygous mutations of two eIF2B genes in early childhood onset form of vanishing white matter disease
3天前
已完结
Ovarian cancer risk of Chinese women with BRCA1/2 germline pathogenic variants
16天前
已完结
Novel de novo mutation in KAT6A gene in a child with severe aplastic anemia
28天前
已完结
Molecular analysis of cancer genomes in children with Lynch syndrome: Exploring causal associations
1个月前
已完结
Pulmonary embolism in congenital bleeding disorders
1个月前
已完结
FVIII inhibitor risk correlated with F8 gene variants in 296 unrelated male Chinese patients with haemophilia A
1个月前
已完结
Necessity of multiplex ligation probe amplification in genetic tests: Germline variant analysis of the APC gene in familial adenomatous polyposis patients
1个月前
已完结
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