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浏览/检索结果: 共12条，第1-10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 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 congenital scoliosis (CS)  16p11.2/TBX6  compound inheritance model  genotype-phenotype correlation  gene dosage   Efficacy of bisphosphonates in patients with synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome: a prospective open study 期刊论文 2019 作者:  Li Chen;  Zhao Yanxue;  Zuo Yuzhi;  Zhou Yangzhong;  Zhang Fa 收藏  |  浏览/下载：66/0  |  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 Comparative analysis of serum proteome in congenital scoliosis patients with TBX6 haploinsufficiency - a first report pointing to lipid metabolism 期刊论文 2018, 卷号: 22, 期号: 1, 页码: 533-545 作者:  Zhu, Qiankun;  Wu, Nan;  Liu, Gang;  Zhou, Yangzhong;  Liu, Sen 收藏  |  浏览/下载：10/0  |  提交时间：2020/01/03 congenital scoliosis  TBX6  proteomics  isobaric tagged relative and absolute quantification  lipid metabolism   Progress and Application of CRISPR/Cas Technology in Biological and Biomedical Investigation 期刊论文 2017, 卷号: 118, 期号: 10, 页码: 3061-3071 作者:  Lin, Jiachen;  Zhou, Yangzhong;  Liu, Jiaqi;  Chen, Jia;  Chen, Weisheng 收藏  |  浏览/下载：2/0  |  提交时间：2020/01/04 CRISPR/Cas TECHNOLOGY  GENE EDITING  DISEASE MODELING  GENE THERAPY  GENETIC SCREENING   CRISPR/Cas9 in zebrafish: an efficient combination for human genetic diseases modeling 期刊论文 2017, 卷号: 136, 期号: 1, 页码: 1-12 作者:  Liu, Jiaqi;  Zhou, Yangzhong;  Qi, Xiaolong;  Chen, Jia;  Chen, Weisheng 收藏  |  浏览/下载：1/0  |  提交时间：2020/01/03 Cover Image, Volume 118, Number 10, October 2017 期刊论文 2017, 卷号: 118, 期号: 10, 页码: i 作者:  Lin Jiachen;  Zhou Yangzhong;  Liu Jiaqi;  Chen Jia;  Chen Weisheng 收藏  |  浏览/下载：1/0  |  提交时间：2020/01/03 Molecular therapeutic strategies for FGFR3 gene-related skeletal dysplasia 期刊论文 2017, 卷号: 95, 期号: 12, 页码: 1303-1313 作者:  Chen, Jia;  Liu, Jiaqi;  Zhou, Yangzhong;  Liu, Sen;  Liu, Gang 收藏  |  浏览/下载：6/0  |  提交时间：2020/01/03 Fibroblast growth factor receptor 3 (FGFR3)  Skeletal dysplasia  Signal transduction  Molecular therapy   Genetic Polymorphism of LBX1 Is Associated With Adolescent Idiopathic Scoliosis in Northern Chinese Han Population 期刊论文 2017, 卷号: 42, 期号: 15, 页码: 1125-1129 作者:  Liu Sen;  Wu Nan;  Zuo Yuzhi;  Zhou Yangzhong;  Liu Jiaqi 收藏  |  浏览/下载：32/0  |  提交时间：2020/01/04 adolescent idiopathic scoliosis  LBX1  single nucleotide polymorphism