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科研机构
中国医学科学院 北... [11]
内容类型
期刊论文 [11]
发表日期
2019 [7]
2018 [3]
2013 [1]
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专题:中国医学科学院 北京协和医学院
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A Recurrent Rare SOX9 Variant (M469V) is Associated with Congenital Vertebral Malformations
期刊论文
2019
作者:
Wu Nan
;
Wang Lianlei
;
Hu Jianhua
;
Zhao Sen
;
Liu Bowen
收藏
  |  
浏览/下载:12/0
  |  
提交时间:2020/01/03
Acampomelic campomelic dysplasia
Campomelic dysplasia
Congenital scoliosis
Congenital vertebral malformations
Exome sequencing
SOX9 gene
Exome sequencing reveals a novel variant in NFX1 causing intracranial aneurysm in a Chinese family
期刊论文
2019
作者:
Ding Xinghuan
;
Zhao Sen
;
Zhang Qianqian
;
Yan Zihui
;
Wang Yang
收藏
  |  
浏览/下载:7/0
  |  
提交时间:2020/01/03
Aneurysm
Genetic
Hemorrhage
TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease
期刊论文
2019
作者:
Chen Weisheng
;
Lin Jiachen
;
Wang Lianlei
;
Li Xiaoxin
;
Zhao Sen
收藏
  |  
浏览/下载:32/0
  |  
提交时间:2020/01/03
TBX6 gene
compound inheritance model
congenital scoliosis (CS)
gene dosage
genotype-phenotype correlation
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
Genetic polymorphisms of PAX1 are functionally associated with different PUMC types of adolescent idiopathic scoliosis in a northern Chinese Han population
期刊论文
2019, 卷号: 688, 页码: 215-220
作者:
Liu, Gang
;
Liu, Sen
;
Li, Xiaoxin
;
Chen, Jia
;
Chen, Weisheng
收藏
  |  
浏览/下载:4/0
  |  
提交时间:2020/01/03
Adolescent idiopathic scoliosis (AIS)
PAX1
Northern Han Chinese
Single nucleotide polymorphism (SNP)
PUMC classification system
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:33/0
  |  
提交时间:2020/01/03
congenital scoliosis (CS)
16p11.2/TBX6
compound inheritance model
genotype-phenotype correlation
gene dosage
Efficacy and safety of ranibizumab 0.5 mg in Chinese patients with visual impairment due to diabetic macular edema: results from the 12-month REFINE study
期刊论文
2019, 卷号: 257, 期号: 3, 页码: 529-541
作者:
Li, Xiaoxin
;
Dai, Hong
;
Li, Xiaorong
;
Han, Mei
;
Li, Jun
收藏
  |  
浏览/下载:172/0
  |  
提交时间:2020/01/03
Anti-vascular endothelial growth factor
Diabetic macular edema
Pro re nata
Ranibizumab
Perturbations of BMP/TGF-beta and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM)
期刊论文
2018, 卷号: 55, 期号: 10, 页码: 675-684
作者:
Wang, Kun
;
Zhao, Sen
;
Liu, Bowen
;
Zhang, Qianqian
;
Li, Yaqi
收藏
  |  
浏览/下载:6/0
  |  
提交时间:2020/01/03
brain arteriovenous malformation (bavm)
whole exome sequencing
genetics heterogeneity
vasculogenesis
Whole-exome sequencing reveals known and novel variants in a cohort of intracranial vertebral-basilar artery dissection (IVAD)
期刊论文
2018, 卷号: 63, 期号: 11, 页码: 1119-1128
作者:
Wang, Kun
;
Zhao, Sen
;
Zhang, Qianqian
;
Yuan, Jian
;
Liu, Jiaqi
收藏
  |  
浏览/下载:8/0
  |  
提交时间:2020/01/03
Genetic polymorphisms of GPR126 are functionally associated with PUMC classifications of adolescent idiopathic scoliosis in a Northern Han population
期刊论文
2018, 卷号: 22, 期号: 3, 页码: 1964-1971
作者:
Liu, Gang
;
Liu, Sen
;
Lin, Mao
;
Li, Xiaoxin
;
Chen, Weisheng
收藏
  |  
浏览/下载:10/0
  |  
提交时间:2020/01/03
adolescent idiopathic scoliosis
GPR126/ADGRG6
single nucleotide polymorphism
PUMC classification
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