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CORC

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Reanalysis of Clinical Exome Sequencing Data 期刊论文
2019, 卷号: 380, 期号: 25, 页码: 2478-2480
作者:  Liu Pengfei;  Meng Linyan;  Normand Elizabeth A;  Xia Fan;  Song Xiaofei
收藏  |  浏览/下载：7/0  |  提交时间：2020/01/03
Exome sequencing reveals a novel variant in NFX1 causing intracranial aneurysm in a Chinese family 期刊论文
2019
作者:  Ding Xinghuan;  Zhao Sen;  Zhang Qianqian;  Yan Zihui;  Wang Yang
收藏  |  浏览/下载：7/0  |  提交时间：2020/01/03
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
Insights into genetics, human biology and disease gleaned from family based genomic studies 期刊论文
2019, 卷号: 21, 期号: 4, 页码: 798-812
作者:  Posey, Jennifer E.;  O'Donnell-Luria, Anne H.;  Chong, Jessica X.;  Harel, Tamar;  Jhangiani, Shalini N.
收藏  |  浏览/下载：25/0  |  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
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
A next-generation microarray further reveals stage-enriched gene expression pattern in the blood fluke Schistosoma japonicum 期刊论文
2017, 卷号: 10, 期号: 1, 页码: 19
作者:  Cai, Pengfei;  Liu, Shuai;  Piao, Xianyu;  Hou, Nan;  You, Hong
收藏  |  浏览/下载：11/0  |  提交时间：2020/01/03
GOP-1 promotes apoptotic cell degradation by activating the small GTPase Rab2 in C. elegans 期刊论文
2017, 卷号: 216, 期号: 6, 页码: 1775-1794
作者:  Yin, Jianhua;  Huang, Yaling;  Guo, Pengfei;  Hu, Siqi;  Yoshina, Sawako
收藏  |  浏览/下载：3/0  |  提交时间：2020/01/04

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