CORC

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CORC

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Novel loss‑of‑function mutation in BRCA2 gene identified in a Chinese female with a family history of ovarian cancer: A case report 期刊论文
Oncology Letters, 2019, 卷号: Vol.17 No.3, 页码: 3350-3354
作者:  Yanzhi Cui;  Yanyan Wang;  Ningzhi Zhang;  Jun He;  Hui Huang
收藏  |  浏览/下载：24/0  |  提交时间：2019/12/17
Whole exome sequencing identified a novel DAG1 mutation in a patient with rare, mild and late age of onset muscular dystrophy-dystroglycanopathy 期刊论文
2019, 卷号: 23, 期号: 2, 页码: 811-818
作者:  Dai, Yi;  Liang, Shengran;  Dong, Xue;  Zhao, Yanhuan;  Ren, Haitao
收藏  |  浏览/下载：10/0  |  提交时间：2020/01/03
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]
收藏  |  浏览/下载：10/0  |  提交时间：2019/12/10
Systematic evaluation of a targeted gene capture sequencing panel for molecular diagnosis of retinitis pigmentosa 期刊论文
PLoS One, 2018, 卷号: Vol.13 No.4, 页码: e0185237
作者:  Hui Huang;  Yanhua Chen;  Huishuang Chen;  Yuanyuan Ma;  Pei-Wen Chiang
收藏  |  浏览/下载：4/0  |  提交时间：2019/12/26
Identification of a novel breast cancer‑causing mutation in the BRCA1 gene by targeted next generation sequencing: A case report 期刊论文
Oncology Letters, 2018, 卷号: Vol.16 No.3, 页码: 3913-3916
作者:  Yanyan Wang;  Da Jiang;  Qiang Zhao;  Hui Huang;  Xue Zhang
收藏  |  浏览/下载：4/0  |  提交时间：2019/12/26
A novel pathogenic splice acceptor site germline mutation in intron 14 of the APC gene in a Chinese family with familial adenomatous polyposis. 期刊论文
ONCOTARGET, 2017
作者:  Wang, Dan;  Liang, Shengyun;  Zhang, Xipeng;  Zhang, Zhao;  Zhao, Guoru
收藏  |  浏览/下载：34/0  |  提交时间：2018/02/02
A novel pathogenic single nucleotide germline deletion in APC gene in a four generation Chinese family with familial adenomatous polyposis 期刊论文
Scientific Reports, 2017
作者:  Zhao Zhang;  Shengyun Liang;  Dan Wang;  Shengran Liang;  Yuwei Li
收藏  |  浏览/下载：43/0  |  提交时间：2018/02/02
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
Next generation sequencing identified novel heterozygous nonsense mutation in CNGB1 gene associated with retinitis pigmentosa in a Chinese patient 期刊论文
ONCOTARGET, 2017, 卷号: 8, 期号: 51
作者:  Banerjee, Santasree;  Yao, Junping;  Zhang, Xinxin;  Niu, Jianjun;  Chen, Zhongshan
收藏  |  浏览/下载：2/0  |  提交时间：2019/12/05
A novel heterozygous germline deletion in MSH2 gene in a five generation chinese family with Lynch syndrome 期刊论文
2017, 卷号: 8, 期号: 33, 页码: 55194-55203
作者:  Wu, Bin;  Ji, Wuyang;  Liang, Shengran;  Ling, Chao
收藏  |  浏览/下载：8/0  |  提交时间：2020/01/04

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