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30 积分 2025-03-04 加入
Rare combination in an infant patient: trisomy 7p and tetralogy of Fallot
13小时前
求助中
Osteoporosis-pseudoglioma syndrome: Report of two cases and a manifesting carrier
2天前
已完结
[Genetic analysis of a pedigree with hereditary coagulation factor Ⅶ deficiency]
1个月前
已完结
[Clinical characteristics and genotypes of patients with Congenital fibrinogen disorders]
1个月前
已关闭
[Clinical and genetic analysis of 8 Chinese pedigrees with inherited dysfibrinogenemia]
1个月前
已完结
Phenotype and genetic characteristics in 20 Chinese patients with 46,XY disorders of sex development
1个月前
已完结
Adult phenotype of KCNQ2 encephalopathy
2个月前
已完结
Clinical, Biochemical, and Molecular Analyses of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients
2个月前
已完结
Newborn screening and genetic variation of medium chain acyl-CoA dehydrogenase deficiency in the Chinese population
2个月前
已完结
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