Lv11
8 积分 2022-01-13 加入
Not the end of the road: Achieving diagnoses following non-diagnostic exome sequencing: experiences at a clinical site of the Undiagnosed Diseases Network
2小时前
待确认
Further Delineation of the Proximal 16p11.2 Microdeletion Syndrome: Novel Findings Among 22 New Individuals
1个月前
已完结
Mito-interpreter: An online tool for implementing the ACMG/AMP standards and guidelines for the interpretation of mitochondrial DNA variants
2个月前
已关闭
Clinical exome sequencing findings in 1589 patients
2个月前
已完结
Novel WFS1 mutations in patients with low-to-middle frequency hearing loss
2个月前
已完结
Prevalence of BRCA1/BRCA2 pathogenic variation in Chinese Han population
5个月前
已完结
Prevalence of BRCA1/BRCA2 pathogenic variation in Chinese Han population
5个月前
已完结
Saturation genome editing-based clinical classification of BRCA2 variants
5个月前
已完结
Partial trisomy 20q in a newborn with dextrocardia
8个月前
已关闭
Two novel CSNK2A1 variants associated with mild Okur-Chung neurodevelopmental syndrome phenotype
8个月前
已完结
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