Lv7
3380 积分 2023-12-15 加入
Characteristic features of the genotype and phenotype of hereditary spherocytosis in the Japanese population
19天前
已关闭
Heterozygous RELN missense variants associated with genetic generalized epilepsy
21天前
已完结
Identification of novel variants in hereditary spherocytosis patients by whole-exome sequencing
25天前
已完结
[Genetic Analysis of A Case of Congenital Dysfibrinogenemia Caused by Arg16His Mutation in Exon 2 of FGA]
1个月前
已关闭
Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy
1个月前
已完结
Analysis of CYP27A1 mutations in Han Chinese women with intrahepatic cholestasis of pregnancy
1个月前
已完结
Integrative analysis of multiomics data identifies selenium-related gene ALAD associating with keshan disease
1个月前
已完结
Fibrinogen Hangzhou: Congenital dysfibrinogenemia caused by the novel missense mutation in FGG (γ308Asn→Thr)
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
New insights from unbiased panel and whole-exome sequencing in a large Chinese cohort with disorders of sex development
1个月前
已完结
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