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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
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:48/0  |  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:40/0  |  提交时间:2019/12/13
Application of next-generation sequencing to screen for pathogenic mutations in 123 unrelated Chinese patients with Marfan syndrome or a related disease 期刊论文
2019
作者:  Li Jiacheng;  Lu Chaoxia;  Wu Wei;  Liu Yaping;  Wang Rongrong
收藏  |  浏览/下载:19/0  |  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:34/0  |  提交时间:2020/01/03
Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies 期刊论文
2018, 卷号: 16, 期号: 1, 页码: 241
作者:  Lu, Chaoxia;  Wu, Wei;  Liu, Fang;  Yang, Kunqi;  Li, Jiacheng
收藏  |  浏览/下载:17/0  |  提交时间:2020/01/03
Gross deletions in FBN1 results in variable phenotypes of Marfan syndrome 期刊论文
2017, 卷号: 474, 页码: 54-59
作者:  Li, Jiacheng;  Wu, Wei;  Lu, Chaoxia;  Liu, Yaping;  Wang, Rongrong
收藏  |  浏览/下载:4/0  |  提交时间:2020/01/03
Steroid sulfatase and filaggrin mutations in a boy with severe ichthyosis, elevated serum IgE level and moyamoya syndrome 期刊论文
2017, 卷号: 628, 页码: 103-108
作者:  Zhang, Qian;  Si, Nuo;  Liu, Yaping;  Zhang, Dong;  Wang, Rong
收藏  |  浏览/下载:7/0  |  提交时间:2020/01/03
Issues Related to Chinese Private Higher Education 会议论文
2nd International Conference on Social, Education and Management Engineering (SEME), Bangkok, THAILAND, 2016-01-01
作者:  Wang, Nuo-si;  Zhang, De-xiang
收藏  |  浏览/下载:1/0  |  提交时间:2019/12/09
Quick Genetic Screening Using Targeted Next-Generation Sequencing in Patients With Tuberous Sclerosis 期刊论文
2015, 卷号: 30, 期号: 5, 页码: 610-614
作者:  Liu, Qing;  Huang, Yan;  Zhang, Mingrong;  Wang, Lian Qing;  Guo, Xia Nan
收藏  |  浏览/下载:4/0  |  提交时间:2020/01/13


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