Lv6
1950 积分 2022-11-09 加入
Dopa-responsive dystonia due to a large deletion in the GTP cyclohydrolase I gene
6天前
已完结
Dopa-responsive dystonia due to a large deletion in the GTP cyclohydrolase I gene
6天前
已关闭
Dopa-responsive dystonia: a clinical and molecular genetic study
6天前
已完结
Trisomy 9 mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelines
7天前
已完结
Mutations profile in Chinese patients with hypertrophic cardiomyopathy
11天前
已完结
Analysis of PROC mutations and clinical features in 22 unrelated families with inherited protein C deficiency
16天前
已完结
Successful Liver Transplantation for Coats Plus Syndrome With Hepatopulmonary Syndrome: A Case Report and Literature Review
19天前
已完结
Hypertrophic cardiomyopathy: two homozygous cases with "typical" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy
1个月前
已完结
低深度全基因组测序技术在产前诊断中的应用专家共识
1个月前
已完结
Mutation Survey of Candidate Genes and Genotype-Phenotype Analysis in 20 Southeastern Chinese Patients with Axenfeld-Rieger Syndrome
1个月前
已完结
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