Lv7
4320 积分 2022-12-28 加入
A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine
5天前
已关闭
Small Copy Number Neutral Intrachromosomal Translocation of PAX6 and Aniridia
5天前
已关闭
Clinical features, genetics, treatment, and long-term outcomes of STAT3 hyper-IgE syndrome: a single-center cohort analysis
17天前
已完结
Defining a tandem repeat catalog and variation clusters for genome-wide analyses and population databases
26天前
已完结
Genome-wide association study of copy number variations in Parkinson’s disease
28天前
已关闭
Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism
1个月前
已关闭
lamassemble: Multiple Alignment and Consensus Sequence of Long Reads
5个月前
已完结
Long-read sequencing identifies FGF14 repeat expansions in Parkinson’s disease
5个月前
已完结
Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy
6个月前
已关闭
Utilization of the All of Us Research Program in study of genetics in Yao syndrome
6个月前
已完结
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