Lv7
4025 积分 2020-11-11 加入
Are Inherited Metabolic Disorders More Common and Less Predictable Than We Thought?
10小时前
待确认
HCSeeker: A Classification Tool for Human Genetic Variant Hot and Cold Spots Designed for PM1 and Benign Criteria in the ACMG-AMP Guideline
1天前
求助中
From screening to strategy: Clinical implications of COL4A3/COL4A4 variants found in reproductive genetic testing
4天前
已完结
From screening to strategy: Clinical implications of COL4A3/COL4A4 variants found in reproductive genetic testing
5天前
已关闭
Unraveling the impact of VHL exon 2 mutations in erythrocytosis or von Hippel-Lindau disease identified RNA-binding proteins involved in VHL splicing
5天前
已完结
Availability of benign missense variant “truthsets” for validation of functional assays: Current status and a systematic approach
12天前
已关闭
Towards a patient-centred classification of genetic disease severity
15天前
已关闭
Towards a patient-centred classification of genetic disease severity
16天前
已关闭
Prenatal exome and genome sequencing for fetal structural abnormalities
1个月前
已完结
Offering and Returning Secondary Findings in the Context of Exome Sequencing for Hearing Loss: Clinicians’ Views and Experiences
1个月前
已完结
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