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20 积分 2023-03-17 加入
拷贝数变异测序的产前诊断指征及检出异常情况：17994例回顾性分析
6小时前
待确认
典型与非典型16p11.2微缺失综合征遗传学特征分析
4天前
已完结
Non-invasive prenatal testing for dominant single-gene disorders using targeted next-generation sequencing
2个月前
已完结
Whole MYBPC3 NGS sequencing as a molecular strategy to improve the efficiency of molecular diagnosis of patients with hypertrophic cardiomyopathy
3个月前
已关闭
Enhancing Non-Invasive Prenatal Testing: A Novel Approach to Improve 45,X Prediction Accuracy
7个月前
已完结
Improving the Performance of Prenatal Cell-Free DNA Screening Through Size-Selective Fetal DNA Enrichment in a Cohort of 71,986 General and High-Risk Pregnancies
7个月前
已完结
Clinical utility of regions of homozygosity (ROH) identified in exome sequencing: when to pursue confirmatory uniparental disomy testing for imprinting disorders?
9个月前
已完结
Utilization of a SNP microarray to detect uniparental disomy: Implications and outcomes
9个月前
已完结
Large regions of homozygosity in prenatal diagnosis
9个月前
已完结
Comprehensive analysis of chromosome abnormalities by chromosome conformation based karyotyping (C-MoKa) in patients with conception failure and pregnancy loss
10个月前
已完结
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