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复旦大学上海医学... [236]
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期刊论文 [223]
会议论文 [13]
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2019 [27]
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专题:复旦大学上海医学院
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pncA gene mutations in reporting pyrazinamide resistance among the MDR-TB suspects
期刊论文
INFECTION GENETICS AND EVOLUTION, 2019, 卷号: 72
作者:
Li, Guoli
;
Wu, Xiaoyuan
;
Lu, Wei
;
Chen, Cheng
;
Zhu, Limei
收藏
  |  
浏览/下载:13/0
  |  
提交时间:2019/12/05
pncA
Pyrazinamide
Multi-drug resistance
Mutation
Sequencing
Large-scale prediction of ADAR-mediated effective human A-to-I RNA editing
期刊论文
BRIEFINGS IN BIOINFORMATICS, 2019, 卷号: 20, 期号: 1
作者:
Shen, Xizhong
;
Song, Guangqi
;
Wang, Jinlin
;
Zhao, Yicheng
;
Zhu, Jimin
收藏
  |  
浏览/下载:25/0
  |  
提交时间:2019/12/05
RNA editing
microRNA targeting
alternative mRNA splicing
gene mutation
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
Identification of an immune signature predicting prognosis risk of patients in lung adenocarcinoma
期刊论文
JOURNAL OF TRANSLATIONAL MEDICINE, 2019, 卷号: 17
作者:
Shang, Jun
;
Song, Qian
;
Yang, Zuyi
;
Zhang, Lanlin
;
Zhang, Chufan
收藏
  |  
浏览/下载:25/0
  |  
提交时间:2019/12/05
Lung adenocarcinoma
Signature
Prognosis
Immune related gene
Tumor immune microenvironment
Mutation burden
Genotoxicity evaluation of titanium dioxide nanoparticles using the mouse lymphoma assay and the Ames test
期刊论文
MUTATION RESEARCH-GENETIC TOXICOLOGY AND ENVIRONMENTAL MUTAGENESIS, 2019, 卷号: 838
作者:
Du, Xiuming
;
Gao, Shunxiang
;
Hong, Liling
;
Zheng, Xin
;
Zhou, Qingyun
收藏
  |  
浏览/下载:25/0
  |  
提交时间:2019/12/05
Titanium dioxide nanoparticles
Gene mutation
Mouse lymphoma assay
Ames test
Genotoxicity
A de novo mutation in DHD domain of SKI causing spina bifida with no craniofacial malformation or intellectual disability
期刊论文
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2019, 卷号: 179, 期号: 6
作者:
Zhang, Ling
;
Xu, Ximing
;
Sun, Kaiqiang
;
Sun, Jingchuan
;
Wang, Yuan
收藏
  |  
浏览/下载:26/0
  |  
提交时间:2019/12/05
DHD domain
lipomeningomyelocele
Shprintzen-Goldberg syndrome
SKI gene
tethered cord
Establishment of an induced pluripotent stem cell line (FDEENTi002-A) from a patient with Best's disease carrying c.888C > A mutation in BEST1 gene
期刊论文
STEM CELL RESEARCH, 2019, 卷号: 38
作者:
Yang, Xian-Jie
;
Chen, Ling
;
Bai, Xinyue
收藏
  |  
浏览/下载:9/0
  |  
提交时间:2019/12/05
Whole-exome sequencing reveals a novel mutation of MT-ND5 gene in a mitochondrial cardiomyopathy pedigree: Patients who show biventricular hypertrophy, hyperlactacidemia, pulmonary hypertension, and decreased exercise tolerance
期刊论文
ANATOLIAN JOURNAL OF CARDIOLOGY, 2019, 卷号: 21, 期号: 1
作者:
Zhou, Nianwei
;
Tang, Lu
;
Jiang, Yingying
;
Qin, Shengmei
;
Cui, Jie
收藏
  |  
浏览/下载:81/0
  |  
提交时间:2019/12/05
MT-ND5
whole-exome sequencing
cardiomyopathy
pulmonary hypertension
NR2F2 loss-of-function mutation is responsible for congenital bicuspid aortic valve
期刊论文
INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE, 2019, 卷号: 43, 期号: 4
作者:
Wang, Juan
;
Abhinav, Pradhan
;
Xu, Ying-Jia
;
Li, Ruo-Gu
;
Zhang, Min
收藏
  |  
浏览/下载:54/0
  |  
提交时间:2019/12/05
congenital heart disease
bicuspid aortic valve
genetics
transcription factor
nuclear receptor subfamily 2 group F member 2
reporter gene assay
Functional analysis of the congenital heart disease-associated GATA4 H436Y mutation in vitro
期刊论文
MOLECULAR MEDICINE REPORTS, 2019, 卷号: 20, 期号: 3
作者:
Fang, Tao
;
Zhu, Yanjie
;
Xu, Anlan
;
Zhang, Yanli
;
Wu, Qingfa
收藏
  |  
浏览/下载:33/0
  |  
提交时间:2019/12/05
congenital heart disease
transcription factor
GATA4 gene mutation
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