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浏览/检索结果: 共11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 Concurrent Hearing and Genetic Screening of 180,469 Neonates with Follow-up in Beijing, China 期刊论文 2019, 卷号: 105, 期号: 4, 页码: 803-812 作者:  Dai Pu;  Huang Li-Hui;  Wang Guo-Jian;  Gao Xue;  Qu Chun-Yan 收藏  |  浏览/下载：37/0  |  提交时间：2020/01/03 aminoglycoside antibiotics  deafness genes  genetic deafness  habilitation  late-onset hearing loss  microarray  newborn genetic screening  newborn hearing screening  ototoxicity  pathogenic variant   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：28/0  |  提交时间：2020/01/03 rare variant phenotypes  Mendelian conditions  Centers for Mendelian Genomics (CMG)  genetic models for disease  disease traits   Marie Unna hereditary hypotrichosis accompanied by multiple familial trichoepithelioma in a Chinese family 期刊论文 2019, 卷号: 46, 期号: 5, 页码: 413-417 作者:  Huang, Ye;  Cai, Chuan;  Ren, Li;  Cui, Caijuan;  Zhang, Xue 收藏  |  浏览/下载：10/0  |  提交时间：2020/01/03 HR  fatty acid-binding protein 12  genetic variant  Marie Unna hereditary hypotrichosis  multiple familial trichoepithelioma   Exome sequencing reveals novel IRXI mutation in congenital heart disease 期刊论文 2017, 卷号: 15, 期号: 5, 页码: 3193-3197 作者:  Guo, Changlong;  Wang, Qidi;  Wang, Yuting;  Yang, Liping;  Luo, Haiyan 收藏  |  浏览/下载：3/0  |  提交时间：2020/01/04 congenital heart disease  genetic variant  whole exome sequencing  iroquois homeobox 1  Sanger sequencing   Environmental factors, seven GWAS-identified susceptibility loci, and risk of gastric cancer and its precursors in a Chinese population 期刊论文 2017, 卷号: 6, 期号: 3, 页码: 708-720 作者:  Cai, Meng;  Dai, Shuyang;  Chen, Wanqing;  Xia, Changfa;  Lu, Lingeng 收藏  |  浏览/下载：4/0  |  提交时间：2020/01/04 Gene-environment interactions  genetic variant  GWAS  gastric cancer  Helicobacter pylori  precancerous lesions   A single-nucleotide polymorphism in the 3 '-UTR region of the adipocyte fatty acid binding protein 4 gene is associated with prognosis of triple-negative breast cancer 期刊论文 2016, 卷号: 7, 期号: 14, 页码: 18984-18998 作者:  Wang, Wenmiao;  Yuan, Peng;  Yu, Dianke;  Du, Feng;  Zhu, Anjie 收藏  |  浏览/下载：4/0  |  提交时间：2020/01/04 triple-negative breast cancer  FABP4  genetic variant  3 '-untranslated regions  prognosis   Genetic variants within microRNA-binding site of RAD51B are associated with risk of cervical cancer in Chinese women 期刊论文 2016, 卷号: 5, 期号: 9, 页码: 2596-2601 作者:  Hang, Dong;  Zhou, Wen;  Jia, Meiqun;  Wang, Lihua;  Zhou, Jing 收藏  |  浏览/下载：6/0  |  提交时间：2020/01/04 Cervical cancer  genetic variant  homologous recombinational repair  miRNA-binding site  RAD51B   Integrative Functional Genomics Implicates EPB41 Dysregulation in Hepatocellular Carcinoma Risk 期刊论文 2016, 卷号: 99, 期号: 2, 页码: 275-286 作者:  Yang, Xinyu;  Yu, Dianke;  Ren, Yanli;  Wei, Jinyu;  Pan, Wenting 收藏  |  浏览/下载：4/0  |  提交时间：2020/01/04 EPB41  HBV  HCC  c-Myc  genetic variant  susceptibility   Common Variant in Glycoprotein Ia Increases Long-Term Adverse Events Risk After Coronary Artery Bypass Graft Surgery 期刊论文 2016, 卷号: 5, 期号: 12 作者:  Liu, Hanning;  Xu, Zhengxi;  Gu, Haiyong;  Li, Wenke;  Chen, Wen 收藏  |  浏览/下载：7/0  |  提交时间：2020/01/04 coronary artery bypass grafting  genetic common variant  glycoprotein Ia  long-term adverse events   A Variant in the Endoglin Gene is Associated with the Development of Sporadic Intracranial Aneurysms 期刊论文 2014, 卷号: 11, 期号: 4, 页码: 294-301 作者:  Lin, Yahui;  Yu, Hui;  Song, Weihua;  Zhang, Yinhui;  Zhang, Channa 收藏  |  浏览/下载：6/0  |  提交时间：2020/01/13 Endoglin  genetic variant  intracranial aneurysms  single nucleotide polymorphism  stroke  subarachnoid hemorrhage