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0 积分 2025-04-10 加入
Two novel truncating variants of the ASPM gene identified in a nonconsanguineous Chinese family associated with primary microcephaly
1天前
待确认
Clinical presentation and follow-up of women affected by Brugada syndrome
1天前
已完结
SCN5A mutations in 442 neonates and children: genotype–phenotype correlation and identification of higher-risk subgroups
3天前
已完结
Hereditary hemolytic anemia caused by diverse point mutations of pyruvate kinase gene found in Japan and Hong Kong
8天前
已完结
[Analysis of a pyruvate kinase deficiency consanguineous pedigree caused by Ile314Thr homozygous mutation]
8天前
已完结
Investigation of GALNS variants and genotype–phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA
9天前
已完结
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