Lv2
155 积分 2021-06-03 加入
Analysing tumours for genetic diagnosis in mosaic neurofibromatosis type 1
17小时前
求助中
Optical genome mapping improves clinical interpretation of constitutional copy number gains and reduces their VUS burden
19小时前
求助中
Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence level
22天前
已完结
Robust detection of pathogenicHYDINvariants that cause primary ciliary dyskinesia using RNA-seq of nasal mucosa
1个月前
已完结
Robust detection of pathogenicHYDINvariants that cause primary ciliary dyskinesia using RNA-seq of nasal mucosa
2个月前
已完结
Clinical validation of RNA sequencing for Mendelian disorder diagnostics
2个月前
已完结
Robust detection of pathogenicHYDINvariants that cause primary ciliary dyskinesia using RNA-seq of nasal mucosa
2个月前
已关闭
Robust detection of pathogenicHYDINvariants that cause primary ciliary dyskinesia using RNA-seq of nasal mucosa
2个月前
已关闭
Predicting variant pathogenicity with AlphaMissense
3个月前
已完结
Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus
3个月前
已完结
皖公网安备34019202002308
