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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
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
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
收藏  |  浏览/下载:45/0  |  提交时间:2019/12/13
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 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
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


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