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浏览/检索结果: 共16条，第1-10条 帮助 限定条件 发表日期：2019    专题：复旦大学上海医学院    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 pncA gene mutations in reporting pyrazinamide resistance among the MDR-TB suspects 期刊论文 INFECTION GENETICS AND EVOLUTION, 2019, 卷号: 72 作者:  Li, Guoli;  Wu, Xiaoyuan;  Lu, Wei;  Chen, Cheng;  Zhu, Limei 收藏  |  浏览/下载：13/0  |  提交时间：2019/12/05 pncA  Pyrazinamide  Multi-drug resistance  Mutation  Sequencing   Identification of gene mutations in patients with primary periodic paralysis using targeted next-generation sequencing 期刊论文 BMC NEUROLOGY, 2019, 卷号: 19 作者:  Dou, Tonghai;  Luo, Sushan;  Xu, Minjie;  Sun, Jian;  Qiao, Kai 收藏  |  浏览/下载：24/0  |  提交时间：2019/12/05 Primary periodic paralysis  Targeted next-generation sequencing  Gene panel  Gene mutation distribution  Calcium homeostasis   Identification of Novel Fusion Transcripts in Undifferentiated Pleomorphic Sarcomas by Transcriptome Sequencing 期刊论文 CANCER GENOMICS & PROTEOMICS, 2019, 卷号: 16, 期号: 5 作者:  Wang, Ting;  Wang, Jian;  Cai, Weiluo;  Zhang, Shuirong;  Shi, Yingqiang 收藏  |  浏览/下载：18/0  |  提交时间：2019/12/05 Soft tissue sarcoma  undifferentiated pleomorphic sarcoma  transcriptome sequencing  fusion gene  RB1  pseudogene  targetable fusion   Definition of clinical gene tests 期刊论文 CELL BIOLOGY AND TOXICOLOGY, 2019, 卷号: 35, 期号: 2 作者:  Wu, Duojiao;  Cheng, Yunfeng;  Wang, Xiangdong 收藏  |  浏览/下载：103/0  |  提交时间：2019/12/05 Gene  Sequencing  Chromosome  DNA  RNA   Screening for hereditary cancers in patients with endometrial cancer reveals a high frequency of germline mutations in cancer predisposition genes 期刊论文 INTERNATIONAL JOURNAL OF CANCER, 2019, 卷号: 145, 期号: 5 作者:  Tian, Wenjuan;  Bi, Rui;  Ren, Yulan;  He, Hongsheng;  Shi, Shanfu 收藏  |  浏览/下载：34/0  |  提交时间：2019/12/05 endometrial cancer  hereditary cancer  mismatch repair gene  Lynch syndrome  next-generation sequencing   Whole-exome sequencing reveals a novel mutation of MT-ND5 gene in a mitochondrial cardiomyopathy pedigree: Patients who show biventricular hypertrophy, hyperlactacidemia, pulmonary hypertension, and decreased exercise tolerance 期刊论文 ANATOLIAN JOURNAL OF CARDIOLOGY, 2019, 卷号: 21, 期号: 1 作者:  Zhou, Nianwei;  Tang, Lu;  Jiang, Yingying;  Qin, Shengmei;  Cui, Jie 收藏  |  浏览/下载：81/0  |  提交时间：2019/12/05 MT-ND5  whole-exome sequencing  cardiomyopathy  pulmonary hypertension   The Clinical and Genetic Features of Co-occurring Epilepsy and Autism Spectrum Disorder in Chinese Children 期刊论文 FRONTIERS IN NEUROLOGY, 2019, 卷号: 10 作者:  Long, Shasha;  Zhou, Hao;  Li, Shuang;  Wang, Tianqi;  Ma, Yu 收藏  |  浏览/下载：30/0  |  提交时间：2019/12/05 epilepsy  ASD  whole exome sequencing  copy number variants  voltage-gated ion channel gene  epilepsy syndrome   Complement C7 is a novel risk gene for Alzheimer's disease in Han Chinese 期刊论文 NATIONAL SCIENCE REVIEW, 2019, 卷号: 6, 期号: 2 作者:  Zhang, Deng-Feng;  Fan, Yu;  Xu, Min;  Wang, Guihong;  Wang, Dong 收藏  |  浏览/下载：18/0  |  提交时间：2019/12/05 Alzheimer's disease  whole-exome sequencing  C7  neuroimaging  complement system   The Messenger RNA and Long Non-coding RNA Expression Profiles in Ectopic and Eutopic Endometrium Provide Novel Insights into Endometriosis 期刊论文 REPRODUCTIVE AND DEVELOPMENTAL MEDICINE, 2019, 卷号: 3, 期号: 1 作者:  Liu, Song-Ping;  Tian, Xin;  Cui, Hong-Yan;  Zhang, Qiong;  Hua, Ke-Qin 收藏  |  浏览/下载：11/0  |  提交时间：2019/12/05 Endometriosis  Gene Profile  Long Non-coding RNA  Messenger RNA  RNA Sequencing   ABCA4 Gene Screening in a Chinese Cohort With Stargardt Disease: Identification of 37 Novel Variants 期刊论文 FRONTIERS IN GENETICS, 2019, 卷号: 10 作者:  Hu, Fang-Yuan;  Li, Jian-kang;  Gao, Feng-Juan;  Qi, Yu-He;  Xu, Ping 收藏  |  浏览/下载：50/0  |  提交时间：2019/12/05 STGD1  next-generation sequencing  ABCA4 gene  mutation spectrum  variant frequency