Lv4
610 积分 2024-06-20 加入
Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks
1个月前
已完结
Optical genome mapping improves clinical interpretation of constitutional copy number gains and reduces their VUS burden
1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
1个月前
已关闭
Detection and genetic analysis of small supernumerary marker chromosomes in prenatal diagnosis
1个月前
已关闭
Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1
1个月前
已完结
Type XXVII collagen at the transition of cartilage to bone during skeletogenesis
1个月前
已关闭
Whole genome sequencing vs chromosomal microarray analysis in prenatal diagnosis
2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
2个月前
已关闭
Trisomy 8 mosaicism in the placenta: A Danish cohort study of 37 cases and a literature review
3个月前
已完结
Hypoplastic nasal bone: A potential marker for facial dysmorphism associated with pathogenic copy number variants on microarray
3个月前
已完结
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