Lv1
18 积分 2023-06-11 加入
Mutation spectrum of fork-head transcriptional factor gene (FOXL2) in Indian Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) patients
3天前
已完结
A Pathogenic Galactosidase A Mutation Coexisting With an MYBPC3 Mutation in a Female Patient With Hypertrophic Cardiomyopathy
5天前
已完结
A Case of Compound Mutations in the MYBPC3 Gene Associated with Biventricular Hypertrophy and Neonatal Death
5天前
已完结
Implications of structural right ventricular involvement in patients with hypertrophic cardiomyopathy
6天前
已完结
Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery
6天前
已完结
Whole MYBPC3 NGS sequencing as a molecular strategy to improve the efficiency of molecular diagnosis of patients with hypertrophic cardiomyopathy
6天前
已完结
Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases
26天前
已完结
Novel NBAS mutations and fever-related recurrent acute liver failure in Chinese children: a retrospective study
26天前
已完结
The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia
1个月前
已完结
Structure of the F-actin-tropomyosin complex
1个月前
已完结
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