CORC

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CORC

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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：63/0  |  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：46/0  |  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：39/0  |  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-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
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
Perturbations of BMP/TGF-beta and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM) 期刊论文
2018, 卷号: 55, 期号: 10, 页码: 675-684
作者:  Wang, Kun;  Zhao, Sen;  Liu, Bowen;  Zhang, Qianqian;  Li, Yaqi
收藏  |  浏览/下载：6/0  |  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
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
Whole-exome sequencing reveals known and novel variants in a cohort of intracranial vertebral-basilar artery dissection (IVAD) 期刊论文
2018, 卷号: 63, 期号: 11, 页码: 1119-1128
作者:  Wang, Kun;  Zhao, Sen;  Zhang, Qianqian;  Yuan, Jian;  Liu, Jiaqi
收藏  |  浏览/下载：8/0  |  提交时间：2020/01/03

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