Lv53
1008 积分 2023-08-18 加入
Phenotypic and genotypic characterization of 1q21.1 copy number variants: A report of 34 new individuals and literature review
1小时前
待确认
Phenotypic and genotypic characterization of 1q21.1 copy number variants: A report of 34 new individuals and literature review
26天前
已完结
Band 3 Campinas: A Novel Splicing Mutation in the Band 3 Gene (AE1 ) Associated With Hereditary Spherocytosis, Hyperactivity of Na+/Li+ Countertransport and an Abnormal Renal Bicarbonate Handling
28天前
已完结
遗传性无（低）纤维蛋白原血症的基因研究进展
30天前
已关闭
Dysfibrinogenemia and hypofibrinogenemia - Spectrum of pathogenic variants in Slovak patients
30天前
已完结
Computer-assisted patient identification tool in inborn errors of metabolism – potential for rare disease patient registry and big data analysis
1个月前
已完结
Next generation sequencing in children with unexplained epilepsy: A retrospective cohort study
1个月前
已完结
TBK1 variants in Chinese patients with amyotrophic lateral sclerosis
1个月前
已完结
Case Report: A Novel Homozygous Variant in the SLX4 Gene Causes Fanconi Anemia
1个月前
已完结
Single-cell transcriptomics trajectory and molecular convergence of clinically relevant mutations in Brugada syndrome
1个月前
已完结
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