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浏览/检索结果: 共6条，第1-6条 帮助 限定条件 学科主题：Genetics & Heredity     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 Whole Exome Sequencing Analysis Identifies Mutations in LRP5 in Indian Families with Familial Exudative Vitreoretinopathy 期刊论文 Genetic Testing and Molecular Biomarkers, 2016, 卷号: 20, 期号: 7, 页码: 346-351 作者:  Zhu, XJ (reprint author), Sichuan Prov Peoples Hosp, 32 First Ring Rd West 2, Chengdu 610072, Sichuan, Peoples R China.;  Zhang, L;  Yang, YM;  Li, SJ;  Tai, ZF 收藏  |  浏览/下载：16/0  |  提交时间：2017/11/09 Whole-exome sequencing reveals a novel frameshift mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in the Indian population 期刊论文 JOURNAL OF HUMAN GENETICS, 2015, 卷号: 60, 期号: 10, 页码: 625-630 作者:  Zhou, Yu;  Saikia, Bibhuti B.;  Jiang, Zhilin;  Zhu, Xiong;  Liu, Yuqing 收藏  |  浏览/下载：34/0  |  提交时间：2016/12/22 CILIARY PROTEIN   Detecting somatic point mutations in cancer genome sequencing data: a comparison of mutation callers 期刊论文 GENOME MEDICINE, 2013, 卷号: 5, 期号: 1, 页码: 42006 作者:  Wang, QG;  Jia, PL;  Li, F;  Chen, HQ;  Ji, HB 收藏  |  浏览/下载：26/0  |  提交时间：2015/07/22 Patient-specific induced-pluripotent stem cells-derived cardiomyocytes recapitulate the pathogenic phenotypes of dilated cardiomyopathy due to a novel DES mutation identified by whole exome sequencing 期刊论文 HUMAN MOLECULAR GENETICS, 2013, 卷号: 22, 期号: 7 Tse, Hung-Fat; Ho, Jenny C. Y.; Choi, Shing-Wan; Lee, Yee-Ki; Butler, Amy W.; Ng, Kwong-Man; Siu, Chung-Wah; Simpson, Michael A.; Lai, Wing-Hon; Chan, Yau-Chi; Au, Ka-Wing; Zhang, Jinqiu; Lay, Kenneth W. J.; Esteban, Miguel A.; Nicholls, John M.; Colman, Alan; Sham, Pak C. 收藏  |  浏览/下载：32/0  |  提交时间：2016/12/16 Patient-specific induced-pluripotent stem cells-derived cardiomyocytes recapitulate the pathogenic phenotypes of dilated cardiomyopathy due to a novel DES mutation identified by whole exome sequencing 期刊论文 HUMAN MOLECULAR GENETICS, 2013, 卷号: 22, 期号: 7 作者:  Sham, Pak C.;  Tse, Hung-Fat;  Ho, Jenny C. Y.;  Choi, Shing-Wan;  Lee, Yee-Ki 收藏  |  浏览/下载：29/0  |  提交时间：2018/12/13 Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia 期刊论文 NATURE GENETICS, 2011, 卷号: 43, 期号: 12, 页码: 1252-U116 作者:  Xiong, Zhi-Qi 收藏  |  浏览/下载：57/0  |  提交时间：2012/07/13 HUMAN-CHROMOSOME 16  CHOREOATHETOSIS  DISORDERS  LINKAGE  LOCUS  CHANNELOPATHIES  GENES  MAPS