CORC

浏览/检索结果: 共110条,第1-10条 帮助

限定条件                
已选(0)清除 条数/页:   排序方式:
Complex ATP7B mutation patterns in Wilson disease and a evaluation of a yeast model for functional analysis of the individual variant 会议论文
作者:  Chen, Yongpeng;  Li, Xiaojin;  Zhang, Wei;  Zhou, Donghu;  Lv, Tingxia
收藏  |  浏览/下载:37/0  |  提交时间:2019/12/05
Genotype and phenotype analysis of a cohort of patients with congenital hyperinsulinism based on DOPA-PET CT scanning 期刊论文
EUROPEAN JOURNAL OF PEDIATRICS, 2019, 卷号: 178, 期号: 8
作者:  Ni, Jinwen;  Ge, Jingjie;  Zhang, Miaoying;  Hussain, Khalid;  Guan, Yihui
收藏  |  浏览/下载:51/0  |  提交时间:2019/12/05
Functional analysis of the congenital heart disease-associated GATA4 H436Y mutation in vitro 期刊论文
MOLECULAR MEDICINE REPORTS, 2019, 卷号: 20, 期号: 3
作者:  Fang, Tao;  Zhu, Yanjie;  Xu, Anlan;  Zhang, Yanli;  Wu, Qingfa
收藏  |  浏览/下载:33/0  |  提交时间:2019/12/05
Complex ATP7B mutation patterns in Wilson disease and evaluation of a yeast model for functional analysis of variants 期刊论文
HUMAN MUTATION, 2019, 卷号: 40, 期号: 5
作者:  Lv, Tingxia;  Li, Xiaojin;  Zhang, Wei;  Zhou, Donghu;  Xu, Anjian
收藏  |  浏览/下载:35/0  |  提交时间:2019/12/05
Gene mutation and clinical analysis of nephronophthisis diagnosed using whole exome sequencing: Experience from China 期刊论文
CLINICAL NEPHROLOGY, 2019, 卷号: 92, 期号: 2
作者:  Tang, Xiaoshan;  Xu, Hong;  Shen, Qian;  Li, Guoming;  Rao, Jia
收藏  |  浏览/下载:28/0  |  提交时间:2019/12/05
Erlotinib versus gemcitabine/cisplatin in Chinese patients with EGFR mutation-positive advanced non-small-cell lung cancer: Crossover extension and post-hoc analysis of the ENSURE study 期刊论文
LUNG CANCER, 2019, 卷号: 130
作者:  Wu, Yi-Long;  Zhou, Caicun;  Lu, Shun;  Qin, Shukui;  Pan, Hongming
收藏  |  浏览/下载:22/0  |  提交时间:2019/12/05
Gene mutation analysis in 12 Chinese children with congenital nephrotic syndrome 期刊论文
BMC NEPHROLOGY, 2018, 卷号: 19
作者:  Li, Guo-min;  Cao, Qi;  Shen, Qian;  Sun, Li;  Zhai, Yi-hui
收藏  |  浏览/下载:4/0  |  提交时间:2019/12/05
Comprehensive Analysis of BAP1 Somatic Mutation in Clear Cell Renal Cell Carcinoma to Explore Potential Mechanisms in Silico 期刊论文
JOURNAL OF CANCER, 2018, 卷号: 9, 期号: 22
作者:  Jin, Shengming;  Wu, Junlong;  Zhu, Yao;  Gu, Weijie;  Wan, Fangning
收藏  |  浏览/下载:9/0  |  提交时间:2019/12/05
Integrated analysis of the impact of age on genetic and clinical aspects of hepatocellular carcinoma 期刊论文
AGING-US, 2018, 卷号: 10, 期号: 8
作者:  Atyah, Manar;  Yin, Yi-Rui;  Zhou, Chen-Hao;  Zhou, Qiang;  Chen, Wan-Yong
收藏  |  浏览/下载:1/0  |  提交时间:2019/12/05
A novel NR2F2 loss-of-function mutation predisposes to congenital heart defect 期刊论文
EUROPEAN JOURNAL OF MEDICAL GENETICS, 2018, 卷号: 61, 期号: 4
作者:  Qiao, Xiao-Hui;  Wang, Qian;  Wang, Juan;  Liu, Xing-Yuan;  Xu, Ying-Jia
收藏  |  浏览/下载:21/0  |  提交时间:2019/12/05


©版权所有 ©2017 CSpace - Powered by CSpace