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浏览/检索结果: 共107条，第1-10条 帮助 限定条件 发表日期：2019    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 A novel DLL4 missense mutation in a Chinese patient with Adams-Oliver syndrome 期刊论文 2019, 卷号: 132, 期号: 14, 页码: 1755-1757 作者:  Yu, Xue;  Wang, Rong-Rong;  Han, Shi-Rui;  Bai, Xiao;  Habulieti, Xiaerbati 收藏  |  浏览/下载：6/0  |  提交时间：2020/01/03 A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia, and photophobia syndrome 期刊论文 2019, 卷号: 7, 期号: 8 作者:  Jiang, Yanyun;  Jin, Hongzhong;  Zeng, Yueping 收藏  |  浏览/下载：7/0  |  提交时间：2020/01/03 alopecia  ichthyosis follicularis  MBTPS2  photophobia   Identification of Two Missense Mutations in DUOX1 (p.R1307Q) and DUOXA1 (p.R56W) That Can Cause Congenital Hypothyroidism Through Impairing H2O2 Generation 期刊论文 2019, 卷号: 10, 页码: 526 作者:  Liu, Shiguo;  Han, Wenxiu;  Zang, Yucui;  Zang, Hongwei;  Wang, Fang 收藏  |  浏览/下载：9/0  |  提交时间：2020/01/03 congenital hypothyroidism  DUOX1  DUOXA1  mutation  H2O2 generation   Efficacy and Safety of Gefitinib as Third-line Treatment in NSCLC Patients With Activating EGFR Mutations Treated With First-line Gefitinib Followed by Second-line Chemotherapy A Single-Arm, Prospective, Multicenter Phase II Study (RE-CHALLENGE, 期刊论文 2019, 卷号: 42, 期号: 5, 页码: 432-439 作者:  Song, Yong;  Wu, Yi-Long;  Cao, Le-Jie;  Chen, Jian-Hua;  Ma, Zhi-Yong 收藏  |  浏览/下载：31/0  |  提交时间：2020/01/03 re-challenge  gefitinib  T790M mutation  progression-free survival  EGFR-TKI  NSCLC   Using Clinical Indices to Distinguish MODY2 (GCK Mutation) and MODY3 (HNF1A Mutation) from Type 1 Diabetes in a Young Chinese Population 期刊论文 2019, 卷号: 10, 期号: 4, 页码: 1381-1390 作者:  Fu, Junling;  Wang, Tong;  Liu, Jieying;  Wang, Xiaojing;  Zhang, Qian 收藏  |  浏览/下载：5/0  |  提交时间：2020/01/03 C-peptide  hsCRP  Lipid  MODY  Type 1 diabetes   Pathological findings following risk-reducing salpingo-oophorectomy in BRCA mutation carriers: A systematic review and meta-analysis 期刊论文 2019 作者:  Cheng Aoshuang;  Li Lei;  Wu Ming;  Lang Jinghe 收藏  |  浏览/下载：5/0  |  提交时间：2020/01/03 BRCA mutation  Meta-analysis  Occult cancer  Prophylactic oophorectomy  Risk-reducing salpingo-oophorectomy  Serous tubal intraepithelial carcinoma   Abnormal DWI Signals of Spine in a Sporadic Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia caused by a novel c.1907T > A. Mutation in CSF1R 会议论文 NEUROLOGY, 2019-04-09 作者:  Li, Shanglin;  Yao, Ming;  Zhu, Yicheng;  Bin, Peng;  Cui, Liying 收藏  |  浏览/下载：3/0  |  提交时间：2020/01/03 Mutation screening of crystallin genes in Chinese families with congenital cataracts 期刊论文 2019, 卷号: 25, 页码: 427-437 作者:  Zhuang, Jianfu;  Cao, Zongfu;  Zhu, Yihua;  Liu, Lijuan;  Tong, Yi 收藏  |  浏览/下载：16/0  |  提交时间：2020/01/03 Successful treatment with osimertinib and its subsequent resistance mechanism in a patient with non-small-cell lung cancer harboring acquired EGFR T790M mutation after recovery from AC0010-induced interstitial lung disease 期刊论文 2019, 卷号: 12, 页码: 5545-5549 作者:  Wang, Hanping;  Zhang, Li;  Shi, Xiaohua;  Zhang, Xiaotong;  Si, Xiaoyan 收藏  |  浏览/下载：10/0  |  提交时间：2020/01/03 osimertinib  AC0010  interstitial lung disease  resistance mechanism  transformation  large-cell neuroendocrine carcinoma   Generation of human induced pluripotent stem cells from individuals with a homozygous CCR5 Delta 32 mutation 期刊论文 2019, 卷号: 38, 页码: 101481 作者:  Chen, Guibin;  Jin, Hui;  Yu, Zhen;  Liu, Yangtengyu;  Li, Zhongwen 收藏  |  浏览/下载：6/0  |  提交时间：2020/01/03