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CORC

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Identification of gene mutations in patients with primary periodic paralysis using targeted next-generation sequencing 期刊论文
BMC NEUROLOGY, 2019, 卷号: 19
作者:  Dou, Tonghai;  Luo, Sushan;  Xu, Minjie;  Sun, Jian;  Qiao, Kai
收藏  |  浏览/下载：23/0  |  提交时间：2019/12/05
Novel Mutations Associated With Various Types of Corneal Dystrophies in a Han Chinese Population 期刊论文
FRONTIERS IN GENETICS, 2019, 卷号: 10
作者:  Zhang, Jing;  Wu, Dan;  Li, Yue;  Fan, Yidan;  Chen, Huiyu
收藏  |  浏览/下载：27/0  |  提交时间：2019/12/05
Identification of causative variants in patients with non-syndromic hearing loss in the Minnan region, China by targeted next-generation sequencing 期刊论文
ACTA OTO-LARYNGOLOGICA, 2019, 卷号: 139, 期号: 3
作者:  Han, Peng;  Wu, Xiaohui;  Gao, Xingqiang;  Zhou, Yulin
收藏  |  浏览/下载：19/0  |  提交时间：2019/12/05
Clinical features and genetic spectrum in Chinese patients with recessive hereditary spastic paraplegia 期刊论文
TRANSLATIONAL NEURODEGENERATION, 2019, 卷号: 8
作者:  Wei, Qiao;  Dong, Hai-Lin;  Pan, Li-Ying;  Chen, Cong-Xin;  Yan, Yang-Tian
收藏  |  浏览/下载：6/0  |  提交时间：2019/12/05
Genetic and clinical features of Chinese patients with mitochondrial ataxia identified by targeted next-generation sequencing 期刊论文
CNS NEUROSCIENCE & THERAPEUTICS, 2019, 卷号: 25, 期号: 1
作者:  Dong, Hai-Lin;  Ma, Yin;  Li, Quan-Fu;  Du, Yi-Chu;  Yang, Lu
收藏  |  浏览/下载：15/0  |  提交时间：2019/12/05
A novel heterozygous large deletion of MSH6 gene in a Chinese family with Lynch syndrome 期刊论文
GENE, 2019, 卷号: 704
作者:  Liu, Yuanyuan;  Wang, Mingwei;  Chen, Qiongrong;  Zheng, Qiaosong;  Li, Guangyu
收藏  |  浏览/下载：12/0  |  提交时间：2019/12/05
Targeted next‐generation sequencing approach for molecular genetic diagnosis of hereditary colorectal cancer: Identification of a novel single nucleotide germline insertion in adenomatous polyposis coli gene causes familial adenomatous polyposis 期刊论文
Molecular Genetics & Genomic Medicine, 2019, 卷号: Vol.7 No.1
作者:  Dan Wang;  Shengyun Liang;  Xipeng Zhang;  Subrata Kumar Dey;  Yuwei Li
收藏  |  浏览/下载：42/0  |  提交时间：2019/12/17
Comprehensive genomic profiling of small cell lung cancer in Chinese patients and the implications for therapeutic potential 期刊论文
CANCER MEDICINE, 2019, 卷号: 8, 期号: 9, 页码: 4338-4347
作者:  Hu, Jing;  Wang, Yu;  Zhang, Yuan;  Yu, Yanfei;  Chen, Hui
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/11
Sequence variants in genes causing nonsyndromic hearing loss in a Pakistani cohort 期刊论文
2019, 卷号: 7, 期号: 9, 页码: e917
作者:  Khan Amjad;  Han Shirui;  Wang Rongrong;  Ansar Muhammad;  Ahmad Wasim
收藏  |  浏览/下载：3/0  |  提交时间：2020/01/03
Preliminary exploration of potential molecular therapeutic targets in recurrent and metastatic parathyroid carcinomas 期刊论文
2019, 卷号: 144, 期号: 3, 页码: 525-532
作者:  Cui, Ming;  Hu, Ya;  Bi, Yalan;  Wang, Weiwei;  Wang, Mengyi
收藏  |  浏览/下载：9/0  |  提交时间：2020/01/03

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