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Noncoding rare variants of TBX6 in congenital anomalies of the kidney and urinary tract
期刊论文
MOLECULAR GENETICS AND GENOMICS, 2019, 卷号: 294, 期号: 2
作者:
Yang, Nan
;
Song, Chengcheng
;
Xu, Hong
;
Zhang, Feng
;
Wang, Hongyan
收藏
  |  
浏览/下载:33/0
  |  
提交时间:2019/12/05
CAKUT
Gene dosage
Noncoding variant
TBX6
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
收藏
  |  
浏览/下载:61/0
  |  
提交时间:2019/12/05
congenital scoliosis (CS)
16p11.2/TBX6
compound inheritance model
genotype-phenotype correlation
gene dosage
TBX6 compound inheritance leads to congenital vertebral malformations in humans and mice
期刊论文
HUMAN MOLECULAR GENETICS, 2019, 卷号: 28, 期号: 4
作者:
Yang, Nan
;
Wu, Nan
;
Zhang, Ling
;
Zhao, Yanxue
;
Liu, Jiaqi
收藏
  |  
浏览/下载:25/0
  |  
提交时间:2019/12/05
TBX6 compound inheritance leads to congenital vertebral malformations in humans and mice
期刊论文
Human Molecular Genetics, 2019, 卷号: Vol.28 No.4, 页码: 539-547
作者:
Nan Yang
;
Nan Wu
;
Ling Zhang
;
Yanxue Zhao
;
Jiaqi Liu
收藏
  |  
浏览/下载:41/0
  |  
提交时间:2019/12/17
TBX6-associated congenital scoliosis 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 : official journal of the American College of Medical Genetics, 2019
作者:
Jiaqi Liu
;
Nan Wu
;
Nan Yang
;
Kazuki Takeda
;
Weisheng Chen
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  |  
浏览/下载:45/0
  |  
提交时间:2019/12/13
16p11.2/TBX6
compound
inheritance
model
congenital
scoliosis
(CS)
gene
dosage
genotype-phenotype
correlation
TBX6-associated congenital scoliosis 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
作者:
Jiaqi Liu
;
Nan Wu
;
Deciphering Disorders Involving Scoliosis and COmorbidities study, Nan Yang
;
Kazuki Takeda
;
Weisheng Chen
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  |  
浏览/下载:38/0
  |  
提交时间:2019/12/13
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
TBX6 compound inheritance leads to congenital vertebral malformations in humans and mice
期刊论文
2019, 卷号: 28, 期号: 4, 页码: 539-547
作者:
Yang, Nan
;
Wu, Nan
;
Zhang, Ling
;
Zhao, Yanxue
;
Liu, Jiaqi
收藏
  |  
浏览/下载:10/0
  |  
提交时间:2020/01/03
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
Comparative analysis of serum proteome in congenital scoliosis patients with TBX6 haploinsufficiency - a first report pointing to lipid metabolism
期刊论文
2018, 卷号: 22, 期号: 1, 页码: 533-545
作者:
Zhu, Qiankun
;
Wu, Nan
;
Liu, Gang
;
Zhou, Yangzhong
;
Liu, Sen
收藏
  |  
浏览/下载:10/0
  |  
提交时间:2020/01/03
congenital scoliosis
TBX6
proteomics
isobaric tagged relative and absolute quantification
lipid metabolism
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