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浏览/检索结果: 共3条，第1-3条 帮助 已选(0)清除 条数/页：5101520253035404550556065707580859095100   排序方式：请选择发表日期升序发表日期降序提交时间升序提交时间降序题名升序题名降序作者升序作者降序 Systematic evaluation of a targeted gene capture sequencing panel for molecular diagnosis of retinitis pigmentosa 期刊论文 2018, 卷号: 13, 期号: 4 作者:  Huang, Hui[1];  Chen, Yanhua[1,2];  Chen, Huishuang[1];  Ma, Yuanyuan[1];  Chiang, Pei-Wen[3] 收藏  |  浏览/下载：10/0  |  提交时间：2019/12/10 Targeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber's congenital amaurosis in unrelated Chinese patients 期刊论文 2017, 卷号: 8, 期号: 21, 页码: 35176 作者:  Huang, Hui[1];  Wang, Ying[2,3];  Chen, Huishuang[1];  Chen, Yanhua[1,4];  Wu, Jing[1] 收藏  |  浏览/下载：2/0  |  提交时间：2019/12/06 Novel mutations c.28G > T (p.Ala10Ser) and c.189G > T (p.Glu63Asp) in WDR62 associated with early onset acanthosis and hyperkeratosis in a patient with autosomal recessive microcephaly type 2 期刊论文 ONCOTARGET, 2016, 卷号: 7, 页码: 78363-78371 作者:  Banerjee, Santasree[1];  Chen, Huishuang[1];  Huang, Hui[1];  Wu, Jing[1];  Yang, Zhiyun[2] 收藏  |  浏览/下载：4/0  |  提交时间：2019/04/24 microcephaly 2  WDR62 mutation  compound heterozygosity  novel mutations  exome sequencing  Pathology Section