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670 积分 2024-06-20 加入
Optical genome mapping improves clinical interpretation of constitutional copy-number gains and reduces their VUS burden
12小时前
求助中
Human imprinting disorders: Principles, practice, problems and progress
8天前
已完结
Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks
3个月前
已完结
Optical genome mapping improves clinical interpretation of constitutional copy number gains and reduces their VUS burden
3个月前
已关闭
Preimplantation Genetic Testing and Carrier Status Detection in Patients with Balanced Chromosomal Rearrangements: A Real-World Multicenter Retrospective Study
3个月前
已关闭
Detection and genetic analysis of small supernumerary marker chromosomes in prenatal diagnosis
3个月前
已关闭
Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1
3个月前
已完结
Type XXVII collagen at the transition of cartilage to bone during skeletogenesis
3个月前
已关闭
Whole genome sequencing vs chromosomal microarray analysis in prenatal diagnosis
4个月前
已完结
Rethinking the pathogenicity of intragenic DMD duplications detected by carrier screening: high prevalence of non-tandem duplications revealed by long-read sequencing
4个月前
已关闭
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