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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:62/0
  |  
提交时间:2019/12/05
congenital scoliosis (CS)
16p11.2/TBX6
compound inheritance model
genotype-phenotype correlation
gene dosage
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
收藏
  |  
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
收藏
  |  
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-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
Measuring e-service quality and its importance to customer satisfaction and loyalty: an empirical study in a telecom setting
期刊论文
ELECTRONIC COMMERCE RESEARCH, 2019, 卷号: 19, 页码: 477-499
作者:
Zhou, Ronggang
;
Wang, Xiaorui
;
Shi, Yuhan
;
Zhang, Renqian
;
Zhang, Leyuan
收藏
  |  
浏览/下载:7/0
  |  
提交时间:2019/12/30
E-service quality (e-SQ)
Customer satisfaction
Customer loyalty
User experience
Telecom setting
Pricing and coordination of a dual-channel supply chain with consideration of carbon tax
会议论文
16th International Conference on Service Systems and Service Management, ICSSSM 2019, Shenzhen, China, 2019-07-13
作者:
Qi, Qi
;
Wang, Jing
;
Zhang, Renqian
收藏
  |  
浏览/下载:4/0
  |  
提交时间:2019/12/30
The single-manufacturer single-retailer integrated production-delivery lot sizing model with production capacity under stochastic lead time demand
会议论文
11th CIRP Conference on Industrial Product-Service Systems, CIRP IPS2 2019, Zhuhai, China, 2019-05-29
作者:
Sun, Xuefang
;
Zhang, Renqian
收藏
  |  
浏览/下载:4/0
  |  
提交时间:2019/12/30
Deletion of exon 4 in LAMA2 is the most frequent mutation in Chinese patients with laminin alpha 2-related muscular dystrophy
期刊论文
SCIENTIFIC REPORTS, 2018, 卷号: 8
作者:
Ge, Lin
;
Liu, Aijie
;
Gao, Kai
;
Du, Renqian
;
Ding, Juan
收藏
  |  
浏览/下载:4/0
  |  
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
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:22/0
  |  
提交时间:2019/12/05
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