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科研机构
中国医学科学院 北... [40]
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期刊论文 [38]
会议论文 [2]
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2019 [12]
2018 [4]
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专题:中国医学科学院 北京协和医学院
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Application of next-generation sequencing to screen for pathogenic mutations in 123 unrelated Chinese patients with Marfan syndrome or a related disease
期刊论文
2019
作者:
Li Jiacheng
;
Lu Chaoxia
;
Wu Wei
;
Liu Yaping
;
Wang Rongrong
收藏
  |  
浏览/下载:19/0
  |  
提交时间:2020/01/03
FBN1 mutation
Marfan syndrome
genotype-phenotype correlations
next-generation sequencing
Reduced default mode network functional connectivity in patients with recurrent major depressive disorder
期刊论文
2019, 卷号: 116, 期号: 18, 页码: 9078-9083
作者:
Yan, Chao-Gan
;
Chen, Xiao
;
Li, Le
;
Castellanos, Francisco Xavier
;
Bai, Tong-Jian
收藏
  |  
浏览/下载:41/0
  |  
提交时间:2020/01/03
default mode network
functional connectivity
major depressive disorder
resting-state fMRI
REST-meta-MDD
Effect of a Quality of Care Improvement Initiative in Patients With Acute Coronary Syndrome in Resource-Constrained Hospitals in China A Randomized Clinical Trial
期刊论文
2019, 卷号: 4, 期号: 5, 页码: 418-427
作者:
Wu, Yangfeng
;
Li, Shenshen
;
Patel, Anushka
;
Li, Xian
;
Du, Xin
收藏
  |  
浏览/下载:219/0
  |  
提交时间:2020/01/03
Candida isolates causing refractory or recurrent oropharyngeal candidiasis in 11 hospitals in China
期刊论文
2019, 卷号: 12, 页码: 865-875
作者:
Yu, Shu-Ying
;
Zhang, Li
;
Chen, Sharon
;
Kong, Fanrong
;
Xiao, Meng
收藏
  |  
浏览/下载:2/0
  |  
提交时间:2020/01/03
oral candidiasis
Candida
identification
antifungal susceptibility
A 105kb interstitial insertion in the Xq27.1 palindrome from pseudoautosomal region PAR1 causes a novel X-linked recessive compound phenotype
期刊论文
2019, 卷号: 17, 期号: 1, 页码: 138
作者:
Si, Nuo
;
Meng, Xiaolu
;
Zhao, Zhen
;
Xia, Weibo
;
Zhang, Xue
收藏
  |  
浏览/下载:3/0
  |  
提交时间:2020/01/03
Interstitial insertion
Pseudoautosomal region 1
Xq27
1 palindrome
X-linked recessive
Genu varum
Text Mining for Drug Discovery
期刊论文
2019, 卷号: 1939, 页码: 231-252
作者:
Zheng Si
;
Dharssi Shazia
;
Wu Meng
;
Li Jiao
;
Lu Zhiyong
收藏
  |  
浏览/下载:9/0
  |  
提交时间:2020/01/03
Biomedical literature
Biomedical text mining
Deep learning
Drug discovery
Electronic medical records
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
2019, 卷号: 21, 期号: 7, 页码: 1548-1558
作者:
Liu, Jiaqi
;
Wu, Nan
;
Yang, Nan
;
Takeda, Kazuki
;
Chen, Weisheng
收藏
  |  
浏览/下载:34/0
  |  
提交时间:2020/01/03
congenital scoliosis (CS)
16p11.2/TBX6
compound inheritance model
genotype-phenotype correlation
gene dosage
A novel MAF missense mutation leads to congenital nuclear cataract by impacting the transactivation of crystallin and noncrystallin genes
期刊论文
2019, 卷号: 692, 页码: 113-118
作者:
Si, Nuo
;
Song, Zixun
;
Meng, Xiaolu
;
Li, Xinru
;
Xiao, Wei
收藏
  |  
浏览/下载:5/0
  |  
提交时间:2020/01/03
Congenital cataract
MAF
Extended homology region
Crystallins
Noncrystallins
Chronic hepatitis B virus infection and total and cause-specific mortality: a prospective cohort study of 0.5 million people
期刊论文
2019, 卷号: 9, 期号: 4, 页码: e027696
作者:
Si, Jiahui
;
Yu, Canqing
;
Guo, Yu
;
Bian, Zheng
;
Meng, Ruogu
收藏
  |  
浏览/下载:3/0
  |  
提交时间:2020/01/03
chronic hepatitis B virus infection
ischaemic heart disease
mortality
prospective cohort study
stroke
Linking endotypes to omics profiles in difficult-to-control asthma using the diagnostic Chinese medicine syndrome differentiation algorithm
期刊论文
2019, 页码: 1-11
作者:
Song Wenping
;
Zheng Si
;
Li Meng
;
Zhang Xia
;
Cao Rui
收藏
  |  
浏览/下载:11/0
  |  
提交时间:2020/01/03
Cold/Hot pattern classification
aldehyde dehydrogenase 3 family member A1 ()
diagnostic biomarker
metabolomics
whole genome DNA methylation
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