Lv21
110 积分 2022-06-17 加入
Role of titin in cardiomyopathy: from DNA variants to patient stratification
2个月前
已完结
[Expert consensus on the test development and preliminary implementation of whole genome sequencing for fetal structural abnormalities]
2个月前
已完结
Calibration of variant effect predictors on genome-wide data masks heterogeneous performance across genes
2个月前
已完结
Genome assembly in the telomere-to-telomere era
4个月前
已完结
[Expert consensus on the prenatal diagnosis and genetic counseling for uniparental disomy-related imprinting disorders]
4个月前
已完结
[Chinese expert consensus statement on the classification and interpretation of variants in genes associated with common inherited cardiovascular diseases]
6个月前
已完结
[Molecular mechanisms of antithrombin gene mutations in 3 pedigrees with hereditary antithrombin deficiency]
7个月前
已完结
Carrier frequency of autosomal recessive genetic conditions in diverse populations: Lessons learned from the genome aggregation database
8个月前
已完结
[Guideline for the application of chromosomal microarray analysis in prenatal diagnosis (2023)]
1年前
已完结
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