中国科学院机构知识库网格
Chinese Academy of Sciences Institutional Repositories Grid
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Malignant ascites-derived organoid (MADO) cultures for gastric cancer in vitro modelling and drug screening 期刊论文  OAI收割
JOURNAL OF CANCER RESEARCH AND CLINICAL ONCOLOGY, 2019, 卷号: 145, 期号: 11, 页码: 2637-2647
作者:  
Li, Jie;  Xu, Huawei
  |  收藏  |  浏览/下载:26/0  |  提交时间:2020/12/09
Rare Copy Number Variants Identify Novel Genes in Sporadic Total Anomalous Pulmonary Vein Connection 期刊论文  OAI收割
FRONTIERS IN GENETICS, 2018, 卷号: 16, 期号: 6, 页码: 559
作者:  
Shi, Xin;  Cheng, Liangping;  Jiao, XianTing
  |  收藏  |  浏览/下载:16/0  |  提交时间:2020/12/09
Whole Exome Sequencing Analysis Identifies Mutations in LRP5 in Indian Families with Familial Exudative Vitreoretinopathy 期刊论文  OAI收割
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:15/0  |  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  OAI收割
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:33/0  |  提交时间:2016/12/22
Detecting somatic point mutations in cancer genome sequencing data: a comparison of mutation callers 期刊论文  OAI收割
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  OAI收割
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  OAI收割
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  OAI收割
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