Lv7
3430 积分 2023-12-15 加入
Interpretation of XIAP Variants of Uncertain Significance in Paediatric Patients with Refractory Crohn’s Disease
5天前
已完结
A progressive neurological condition with acquired sea-blue histiocytosis further the diagnosis of Niemann-Pick type C1 in a 10-year-old boy
12天前
已完结
Characteristic features of the genotype and phenotype of hereditary spherocytosis in the Japanese population
1个月前
已关闭
Heterozygous RELN missense variants associated with genetic generalized epilepsy
1个月前
已完结
Identification of novel variants in hereditary spherocytosis patients by whole-exome sequencing
1个月前
已完结
[Genetic Analysis of A Case of Congenital Dysfibrinogenemia Caused by Arg16His Mutation in Exon 2 of FGA]
2个月前
已关闭
Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy
2个月前
已完结
Analysis of CYP27A1 mutations in Han Chinese women with intrahepatic cholestasis of pregnancy
2个月前
已完结
Integrative analysis of multiomics data identifies selenium-related gene ALAD associating with keshan disease
2个月前
已完结
Fibrinogen Hangzhou: Congenital dysfibrinogenemia caused by the novel missense mutation in FGG (γ308Asn→Thr)
2个月前
已完结
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