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复旦大学上海医学... [214]
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期刊论文 [184]
会议论文 [30]
发表日期
2019 [22]
2018 [28]
2017 [28]
2016 [17]
2015 [21]
2014 [32]
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专题:复旦大学上海医学院
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Missense mutations in LAMA2 causing a new phenotype of mild cognitive impairment proximal myopathy, seizure, and severe leukoencephalopathy: A case report and protein analysis
期刊论文
CLINICAL NEUROPATHOLOGY, 2019, 卷号: 38, 期号: 3
作者:
Ding, Man
;
Wang, Xi
;
Zeng, Yanping
;
Lu, Zuneng
;
Cai, Shuang
收藏
  |  
浏览/下载:36/0
  |  
提交时间:2019/12/05
congenital muscular dystrophy
LAMA2
la minin-alpha 2-deficiency
MDC1A
Whole-exome sequencing reveals SALL4 variants in premature ovarian insufficiency: an update on genotype-phenotype correlations
期刊论文
HUMAN GENETICS, 2019, 卷号: 138, 期号: 1
作者:
Wang, Xiuxia
;
Wang, Qiqi
;
Li, Da
;
Cai, Baozhu
;
Chen, Qing
收藏
  |  
浏览/下载:25/0
  |  
提交时间:2019/12/05
M1-TO-M2 PHENOTYPE SHIFT OF MACROPHAGES IN VASCULAR TISSUE OF TAKAYASU ARTERITIS
会议论文
作者:
Kong, Xiufang
;
Xu, Ming
;
Cui, Xiaomeng
;
Ma, Lingying
;
Chen, Huiyong
收藏
  |  
浏览/下载:36/0
  |  
提交时间:2019/12/05
HSF1: a mediator in metabolic alteration of hepatocellular carcinoma cells in cross-talking with tumor-associated macrophage
期刊论文
AMERICAN JOURNAL OF TRANSLATIONAL RESEARCH, 2019, 卷号: 11, 期号: 8
作者:
Liu, Hua Tian
;
Huang, Dan Ai
;
Li, Miao Miao
;
Liu, He Deng
;
Guo, Kun
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  |  
浏览/下载:28/0
  |  
提交时间:2019/12/05
Hepatocellular carcinoma
heat shock transcription factor 1
tumor-associated macrophages
metabolic phenotype
Genotype and phenotype analysis of a cohort of patients with congenital hyperinsulinism based on DOPA-PET CT scanning
期刊论文
EUROPEAN JOURNAL OF PEDIATRICS, 2019, 卷号: 178, 期号: 8
作者:
Ni, Jinwen
;
Ge, Jingjie
;
Zhang, Miaoying
;
Hussain, Khalid
;
Guan, Yihui
收藏
  |  
浏览/下载:51/0
  |  
提交时间:2019/12/05
Congenital hyperinsulinism
Hypoglycemia
Hyperinsulinemia
Mutation
Genetic association studies
Early life exposure to famine and reproductive aging among Chinese women
期刊论文
MENOPAUSE-THE JOURNAL OF THE NORTH AMERICAN MENOPAUSE SOCIETY, 2019, 卷号: 26, 期号: 5
作者:
Wang, Nengying
;
Huang, Yinqiong
;
Wen, Junping
;
Su, Qing
;
Huang, Yanling
收藏
  |  
浏览/下载:48/0
  |  
提交时间:2019/12/05
Early menopause
Fetal exposure to famine
Premature ovarian failure
Thrifty phenotype theory
Phenotype and Genotype of a Cohort of Chinese Children with Early-Onset Protein-Losing Enteropathy
期刊论文
JOURNAL OF PEDIATRICS, 2019, 卷号: 208
作者:
Ye, Ziqing
;
Huang, Ying
;
Wang, Yuhuan
;
Lu, Junping
;
Wu, Jie
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  |  
浏览/下载:7/0
  |  
提交时间:2019/12/05
TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model
期刊论文
GENETICS IN MEDICINE, 2019, 卷号: 21, 期号: 7
作者:
Liu, Jiaqi
;
Wu, Nan
;
Yang, Nan
;
Takeda, Kazuki
;
Chen, Weisheng
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  |  
浏览/下载:63/0
  |  
提交时间:2019/12/05
congenital scoliosis (CS)
16p11.2/TBX6
compound inheritance model
genotype-phenotype correlation
gene dosage
Staphylococcus aureus with an erm-mediated constitutive macrolide-lincosamide-streptogramin B resistance phenotype has reduced susceptibility to the new ketolide, solithromycin
期刊论文
BMC INFECTIOUS DISEASES, 2019, 卷号: 19
作者:
Yao, Weiming
;
Xu, Guangjian
;
Li, Duoyun
;
Bai, Bing
;
Wang, Hongyan
收藏
  |  
浏览/下载:26/0
  |  
提交时间:2019/12/05
Staphylococcus aureus
Constitutive macrolide-lincosamide-streptogramin B (cMLSB) resistance
Solithromycin
Evaluation of the BRCAness phenotype and its correlations with clinicopathological features in triple-negative breast cancers
期刊论文
HUMAN PATHOLOGY, 2019, 卷号: 84
作者:
Tian, Tian
;
Shan, Ling
;
Yang, Wentao
;
Zhou, Xiaoyan
;
Shui, Ruohong
收藏
  |  
浏览/下载:6/0
  |  
提交时间:2019/12/05
Triple-negative breast cancers
BRCAness
BRCA1-like genomic profile
BRCA1 promoter methylation
BRCA1/2 mutation
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