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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:64/0
  |  
提交时间:2019/12/05
congenital scoliosis (CS)
16p11.2/TBX6
compound inheritance model
genotype-phenotype correlation
gene dosage
Basic elements and comprehensive evaluation of engineering harmony
会议论文
作者:
Wang, Qiankun
;
Zuo, Weiwei
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  |  
浏览/下载:6/0
  |  
提交时间:2019/12/05
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:48/0
  |  
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:40/0
  |  
提交时间:2019/12/13
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:35/0
  |  
提交时间:2020/01/03
congenital scoliosis (CS)
16p11.2/TBX6
compound inheritance model
genotype-phenotype correlation
gene dosage
Efficacy of bisphosphonates in patients with synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome: a prospective open study
期刊论文
2019
作者:
Li Chen
;
Zhao Yanxue
;
Zuo Yuzhi
;
Zhou Yangzhong
;
Zhang Fa
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  |  
浏览/下载:66/0
  |  
提交时间:2020/01/03
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease
期刊论文
HUMAN GENETICS, 2018, 卷号: 137, 期号: 6-7
作者:
Liu, Jiaqi
;
Zhou, Yangzhong
;
Liu, Sen
;
Song, Xiaofei
;
Yang, Xin-Zhuang
收藏
  |  
浏览/下载:23/0
  |  
提交时间:2019/12/05
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease
期刊论文
2018, 卷号: 137, 期号: 6-7, 页码: 553-567
作者:
Liu, Jiaqi
;
Zhou, Yangzhong
;
Liu, Sen
;
Song, Xiaofei
;
Yang, Xin-Zhuang
收藏
  |  
浏览/下载:9/0
  |  
提交时间:2020/01/03
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
微地震事件的检测和定位方法与装置
专利
申请日期: 2017-01-01, 公开日期: 2017-05-17
作者:
陈海潮
;
孟晓波
;
钮凤林
;
唐有彩
;
左乾坤
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  |  
浏览/下载:11/0
  |  
提交时间:2020/01/03
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