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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:65/0
  |  
提交时间:2019/12/05
congenital scoliosis (CS)
16p11.2/TBX6
compound inheritance model
genotype-phenotype correlation
gene dosage
Standardized Operational Protocol for Human Brain Banking in China
期刊论文
NEUROSCIENCE BULLETIN, 2019, 卷号: 35, 期号: 2
作者:
Qiu, Wenying
;
Zhang, Hanlin
;
Bao, Aimin
;
Zhu, Keqing
;
Huang, Yue
收藏
  |  
浏览/下载:46/0
  |  
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
收藏
  |  
浏览/下载:49/0
  |  
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:41/0
  |  
提交时间:2019/12/13
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
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:35/0
  |  
提交时间:2020/01/03
TBX6 gene
compound inheritance model
congenital scoliosis (CS)
gene dosage
genotype-phenotype correlation
Standardized Operational Protocol for Human Brain Banking in China
期刊论文
2019, 卷号: 35, 期号: 2,SI, 页码: 270-276
作者:
Qiu, Wenying
;
Zhang, Hanlin
;
Bao, Aimin
;
Zhu, Keqing
;
Huang, Yue
收藏
  |  
浏览/下载:50/0
  |  
提交时间:2020/01/03
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
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  |  
浏览/下载:222/0
  |  
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:5/0
  |  
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:36/0
  |  
提交时间:2020/01/03
congenital scoliosis (CS)
16p11.2/TBX6
compound inheritance model
genotype-phenotype correlation
gene dosage
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