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44 积分 2023-03-17 加入
Expanded noninvasive prenatal screening for dominant single-gene disorders: proof-of-concept, performance, and challenges
1个月前
已完结
Improved Genetic Characterization of Congenital Adrenal Hyperplasia by Long-Read Sequencing Compared with Multiplex Ligation-Dependent Probe Amplification Plus Sanger Sequencing
3个月前
已完结
Genomic Detection and Delineation of Chromoanasynthesis by Mate-Pair Sequencing
5个月前
已完结
Genomic Detection and Delineation of Chromoanasynthesis by Mate-Pair Sequencing
5个月前
已关闭
Prenatal Exome Sequencing Analysis in Fetuses With Structural Anomalies: A Multicenter Prospective Cohort Study With Practical Implications
8个月前
已完结
单亲二体相关印记疾病的产前诊断与遗传咨询专家共识
9个月前
已完结
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
11个月前
已完结
典型与非典型16p11.2微缺失综合征遗传学特征分析
11个月前
已完结
Non-invasive prenatal testing for dominant single-gene disorders using targeted next-generation sequencing
1年前
已完结
Whole MYBPC3 NGS sequencing as a molecular strategy to improve the efficiency of molecular diagnosis of patients with hypertrophic cardiomyopathy
1年前
已关闭
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