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Chinese Academy of Sciences Institutional Repositories Grid
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CAS IR Grid
机构
成都生物研究所 [2]
广州生物医药与健康研... [2]
上海营养与健康研究所 [2]
上海神经科学研究所 [1]
上海生物化学与细胞生... [1]
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OAI收割 [8]
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期刊论文 [8]
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2019 [1]
2018 [1]
2016 [1]
2015 [1]
2013 [3]
2011 [1]
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学科主题
Genetics &... [8]
Biochemist... [4]
Biotechnol... [1]
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学科主题:Genetics & Heredity
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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
Gastric cancer
Malignant ascites
Organoid
Drug screening
Personalised medicine
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
congenital heart defects
total anomalous pulmonary venous connection
whole-exome sequencing
copy number variants
pathogenesis
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
CILIARY PROTEIN
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
HUMAN-CHROMOSOME 16
CHOREOATHETOSIS
DISORDERS
LINKAGE
LOCUS
CHANNELOPATHIES
GENES
MAPS