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中国医学科学院北京... [5]

山东大学 [2]

复旦大学上海医学院 [2]

昆明医科大学 [2]

西安交通大学 [1]

中南大学 [1]

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会议论文 [1]

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	Phenotypic variability of SLC7A14 mutations in patients with inherited retinal dystrophy 期刊论文 OPHTHALMIC GENETICS, 2019, 卷号: 40, 期号: 2 作者: Lia, Jun; Guo, Li-Yun; Zheng, Sui-Lian; Zhu, Qin; Duan, Wen-Hua 收藏 \| 浏览/下载：22/0 \| 提交时间：2019/12/04 Inherited retinal dystrophy SLC7A14 gene targeted exome sequencing mutations
	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 Primary periodic paralysis Targeted next-generation sequencing Gene panel Gene mutation distribution Calcium homeostasis
	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 Novel gene deletion mutation Targeted next-generation sequencing Multiplex ligation-dependent probe amplification Colorectal cancer
	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 APC gene Chinese population colorectal cancer familial adenomatous polyposis single nucleotide deletion targeted next‐generation sequencing
	Targeted sequencing reveals distinct pathogenic variants in Chinese patients with lung adenocarcinoma brain metastases 期刊论文 ONCOLOGY LETTERS, 2018, 卷号: 15, 期号: 4 作者: Ma, Yanchun; Chen, Kun; Yang, Zhenhua; Guan, Ming 收藏 \| 浏览/下载：2/0 \| 提交时间：2019/12/05 gene mutations brain metastases lung adenocarcinoma next-generation sequencing targeted therapy
	Identification of a novel BRAF Thr599dup mutation in lung adenocarcinoma 期刊论文 OPEN MEDICINE, 2018, 卷号: 13, 期号: 1, 页码: 278-280 作者: Zhang, Xuefei; Li, Mo; Lv, Desheng; Sun, Ge; Bai, Yu 收藏 \| 浏览/下载：2/0 \| 提交时间：2019/12/11 BRAF thr599dup gene mutation Next-generation sequencing Targeted therapy Lung adenocarcinoma
	Targeted gene capture sequencing in diagnosis of dystonia patients 期刊论文 2018, 卷号: 390, 页码: 36-41 作者: Ma, Jun; Wang, Lin; Yang, Ying-Mai; Wan, Xin-Hua 收藏 \| 浏览/下载：4/0 \| 提交时间：2020/01/03 Dystonia Targeted gene capture Next-generation sequencing
	Detection of circulating tumor DNA in patients with advanced non-small cell lung cancer 期刊论文 ONCOTARGET, 2017, 卷号: 8, 页码: 2130-2140 作者: Yao, Yu; Liu, Jinghao; Li, Lei; Yuan, Yuan; Nan, Kejun 收藏 \| 浏览/下载：13/0 \| 提交时间：2019/11/26 targeted sequencing NSCLC circulating tumor DNA gene fusion EGFR
	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; You, Yan 收藏 \| 浏览/下载：8/0 \| 提交时间：2020/01/04 Lynch syndrome MSH2 gene targeted next generation sequencing novel mutation DNA mismatch repair gene
	Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss 期刊论文 2017, 卷号: 21, 期号: 5, 页码: 316-321 作者: Wang Rongrong; Han Shirui; Khan Amjad; Zhang Xue 收藏 \| 浏览/下载：4/0 \| 提交时间：2020/01/04 hearing loss gene mutation targeted next-generation sequencing whole-exome sequencing

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