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浏览/检索结果: 共9条，第1-9条 帮助 限定条件 专题：中国医学科学院 北京协和医学院    第一署名单位    第一作者单位    通讯作者单位     已选(0)清除 条数/页：5101520253035404550556065707580859095100   排序方式：请选择作者升序作者降序题名升序题名降序发表日期升序发表日期降序提交时间升序提交时间降序 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   Gene mutation spectrum and genotype-phenotype correlation in a cohort of Chinese osteogenesis imperfecta patients revealed by targeted next generation sequencing (vol 28, pg 2985, 2017) 期刊论文 2018, 卷号: 29, 期号: 1, 页码: 261-261 作者:  Liu, Y.;  Asan;  Ma, D.;  Lv, F.;  Xu, X. 收藏  |  浏览/下载：3/0  |  提交时间：2020/01/03 Gene mutation spectrum and genotype-phenotype correlation in a cohort of Chinese osteogenesis imperfecta patients revealed by targeted next generation sequencing 期刊论文 2017, 卷号: 28, 期号: 10, 页码: 2985-2995 作者:  Liu, Y.;  Asan;  Ma, D.;  Lv, F.;  Xu, X. 收藏  |  浏览/下载：3/0  |  提交时间：2020/01/03 Genotype-phenotypecorrelation  Nextgeneration sequencing  Osteogenesis imperfecta   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   Non-driver mutations in myeloproliferative neoplasm-associated myelofibrosis 期刊论文 2017, 卷号: 10, 期号: 1, 页码: 99 作者:  Li Bing;  Gale Robert Peter;  Xu Zefeng;  Qin Tiejun;  Song Zhen 收藏  |  浏览/下载：3/0  |  提交时间：2020/01/04 Myeloproliferative neoplasm-associated myelofibrosis  Non-driver mutation  Targeted gene sequencing   Differential Diagnosis of Two Chinese Families with Dyschromatoses by Targeted Gene Sequencing 期刊论文 2016, 卷号: 129, 期号: 1, 页码: 33-+ 作者:  Liu, Jia-Wei;  Asan;  Sun, Jun;  Vano-Galvan, Sergio;  Liu, Feng-Xia 收藏  |  浏览/下载：4/0  |  提交时间：2020/01/04 Dyschromatoses  Dyschromatosis Symmetrica Hereditaria  Dyschromatosis Universalis Hereditaria  Targeted Gene Sequencing   Identification of mutations in the F8 and F9 gene in families with haemophilia using targeted high-throughput sequencing 期刊论文 2016, 卷号: 22, 期号: 5, 页码: E427-E434 作者:  Lyu, C.;  Xue, F.;  Liu, X.;  Liu, W.;  Fu, R. 收藏  |  浏览/下载：9/0  |  提交时间：2020/01/04 blood coagulation factor inhibitors  haemophilia A  haemophilia B  hereditary coagulation disorders  high-throughput DNA sequencing   Identification of novel mutations of PKD1 gene in Chinese patients with autosomal dominant polycystic kidney disease by targeted next-generation sequencing 期刊论文 2014, 卷号: 433, 页码: 12-19 作者:  Yang, Tao;  Meng, Yan;  Wei, Xiaoming;  Shen, Jiandong;  Zhang, Mingrong 收藏  |  浏览/下载：4/0  |  提交时间：2020/01/13 ADPKD  Mutation  PKD1  Targeted next-generation sequencing