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：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
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：34/0  |  提交时间：2020/01/03
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
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
CNVbase: Batch identification of novel and rare copy number variations based on multi-ethnic population data 期刊论文
JOURNAL OF GENETICS AND GENOMICS, 2017, 卷号: 44, 期号: 7
作者:  Zhang, Cheng;  Lu, Jianqi;  Lou, Haiyi;  Du, Renqian;  Xu, Shuhua
收藏  |  浏览/下载：4/0  |  提交时间：2019/12/05
Correlation between frequency of non-allelic homologous recombination and homology properties: evidence from homology-mediated CNV mutations in the human genome 期刊论文
HUMAN MOLECULAR GENETICS, 2015, 卷号: 24, 期号: 5
作者:  Peng, Zhen;  Zhou, Weichen;  Fu, Wenqing;  Du, Renqian;  Jin, Li
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/13
Evaluation of copy number variation detection for a SNP array platform 期刊论文
BMC BIOINFORMATICS, 2014, 卷号: 15
作者:  Zhang, Xin;  Du, Renqian;  Li, Shilin;  Zhang, Feng;  Jin, Li
收藏  |  浏览/下载：1/0  |  提交时间：2019/12/19

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