Lv1
70 积分 2024-02-23 加入
Leukoencephalopathy with calcifications and cysts: A case report with literature review
1天前
待确认
Whole-exome sequencing identified novel KIF5A mutations in Chinese patients with amyotrophic lateral sclerosis and Charcot-Marie-Tooth type 2
2天前
已关闭
Whole-exome sequencing identified novel KIF5A mutations in Chinese patients with amyotrophic lateral sclerosis and Charcot-Marie-Tooth type 2
2天前
已完结
[Genotype-phenotype correlations of pathogenic variants in the FLNC gene]
7天前
已关闭
Improved Diagnostic Yield in Recessive Intellectual Disability Utilizing Systematic Whole Exome Sequencing Data Reanalysis
27天前
已关闭
Improved Diagnostic Yield in Recessive Intellectual Disability Utilizing Systematic Whole Exome Sequencing Data Reanalysis
27天前
已完结
Perinatal stroke and hypofibrinogenemia: Is the new missense fibrinogen variant γ p.Gly310Glu the cause of the procoagulant state?
28天前
已完结
Comprehensive analysis of PTEN status in breast carcinomas
1个月前
已完结
VarGenius-HZD Allows Accurate Detection of Rare Homozygous or Hemizygous Deletions in Targeted Sequencing Leveraging Breadth of Coverage
1个月前
已完结
VarGenius-HZD Allows Accurate Detection of Rare Homozygous or Hemizygous Deletions in Targeted Sequencing Leveraging Breadth of Coverage
1个月前
已关闭