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浏览/检索结果: 共8条，第1-8条 帮助 限定条件 专题：中国医学科学院 北京协和医学院    第一署名单位    第一作者单位    通讯作者单位     已选(0)清除 条数/页：5101520253035404550556065707580859095100   排序方式：请选择作者升序作者降序题名升序题名降序发表日期升序发表日期降序提交时间升序提交时间降序 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 Aneurysm  Genetic  Hemorrhage   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 gene  compound inheritance model  congenital scoliosis (CS)  gene dosage  genotype-phenotype correlation   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 congenital scoliosis (CS)  16p11.2/TBX6  compound inheritance model  genotype-phenotype correlation  gene dosage   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 brain arteriovenous malformation (bavm)  whole exome sequencing  genetics heterogeneity  vasculogenesis   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 Admission glucose and in-hospital mortality in patients with acute myocardial infarction, with and without diabetes, from 2001 to 2011 (the China PEACE-Retrospective Acute Myocardial Infarction Study): a retrospective analysis 会议论文 LANCET, 2015-10-01 作者:  Zhao, Shi;  Murugiah, Karthik;  Li, Xi;  Li, Jing;  Li, Na 收藏  |  浏览/下载：2/0  |  提交时间：2020/01/13 Admission glucose and in-hospital mortality in patients with acute myocardial infarction, with and without diabetes, from 2001 to 2011 (the China PEACE-Retrospective Acute Myocardial Infarction Study): a retrospective analysis 期刊论文 2015, 卷号: 386, 页码: 43-43 作者:  Zhao, Shi;  Murugiah, Karthik;  Li, Xi;  Li, Jing;  Li, Na 收藏  |  浏览/下载：2/0  |  提交时间：2020/01/13