Lv41
740 积分 2024-06-20 加入
Incorporation of exome‐based CNV analysis makes trio‐WES a more powerful tool for clinical diagnosis in neurodevelopmental disorders: A retrospective study
12天前
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
Human imprinting disorders: Principles, practice, problems and progress
1个月前
已完结
Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks
4个月前
已完结
Optical genome mapping improves clinical interpretation of constitutional copy number gains and reduces their VUS burden
4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
4个月前
已关闭
Detection and genetic analysis of small supernumerary marker chromosomes in prenatal diagnosis
4个月前
已关闭
Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1
5个月前
已完结
Type XXVII collagen at the transition of cartilage to bone during skeletogenesis
5个月前
已关闭
Whole genome sequencing vs chromosomal microarray analysis in prenatal diagnosis
5个月前
已完结
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