Lv3
380 积分 2026-04-07 加入
Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression
9小时前
已完结
肿瘤三维基因组学研究进展
27天前
已完结
3D genome sequencing technology in its mid-teens: past, present, and future
27天前
已完结
拷贝数变异测序的产前诊断指征及检出异常情况:17 994例回顾性分析
1个月前
已完结
[A consensus recommendation for the interpretation and reporting of copy number variation and regions of homozygosity in prenatal genetic diagnosis]
1个月前
已完结
[Guidelines for the application of chromosomal microarray analysis in prenatal diagnosis (2023)]
1个月前
已完结
[Standards for the interpretation of constitutional copy number gain: Recommendation from the American College of Medical Genetics and Genomics (ACMG) and Clinical Genome Resource (ClinGen)]
1个月前
已完结
Exploring the unique characteristics of genes with dual autosomal dominant and recessive inheritance: mechanisms, phenotypes and candidate identification
4个月前
已完结
The landscape of chromosomal aberrations in couples seeking assisted reproductive treatment
6个月前
已完结