CORC

在结果中检索

CORC

浏览/检索结果: 共37条，第1-10条 帮助

已选(0)清除 条数/页：   排序方式：
A family with Danon disease caused by a splice site mutation in LAMP2 that generates a truncated protein 期刊论文
MOLECULAR GENETICS & GENOMIC MEDICINE, 2019, 卷号: 7, 期号: 3
作者:  Tang, Lu;  Sun, Minmin;  Pan, Cuizhen;  Shu, Xianhong;  Zhou, Nianwei
收藏  |  浏览/下载：41/0  |  提交时间：2019/12/05
A splice site mutation causing exon 6 skipping in SLC20A2 gene in a primary familial brain calcification family 期刊论文
Brain Research Bulletin, 2019
作者:  Yuan-Tao Huang;  Li-Hua Zhang;  Mei-Fang Li;  Lin Cheng;  Guo-Ying Zou
收藏  |  浏览/下载：10/0  |  提交时间：2019/12/13
Whole-exome sequencing identification of a novel splicing mutation of RUNX2 in a Chinese family with cleidocranial dysplasia 期刊论文
Archives of Oral Biology, 2019, 卷号: Vol.100, 页码: 49-56
作者:  Tingting Zhang;  Jing Wu;  Xiaoxue Zhao;  Feifei Hou;  Tengfei Ma
收藏  |  浏览/下载：31/0  |  提交时间：2019/12/17
Whole-exome sequencing identification of a novel splicing mutation of RUNX2 in a Chinese family with cleidocranial dysplasia. 期刊论文
Archives of oral biology, 2019, 卷号: Vol.100, 页码: 49-56
作者:  Tingting Zhang;  Jing Wu;  Xiaoxue Zhao;  Feifei Hou;  Tengfei Ma
收藏  |  浏览/下载：15/0  |  提交时间：2019/12/17
A novel splice‐site mutation in the ATP2C1 gene of a Chinese family with Hailey‐Hailey disease 期刊论文
Journal of Cellular Biochemistry, 2019, 卷号: Vol.120 No.3, 页码: 3630-3636
作者:  Heng Xiao;  Xiangjun Huang;  Hongbo Xu;  Xiang Chen;  Wei Xiong
收藏  |  浏览/下载：9/0  |  提交时间：2019/12/13
A splice site mutation causing exon 6 skipping in SLC20A2 gene in a primary familial brain calcification family. 期刊论文
Brain research bulletin, 2019
作者:  Yuan-Tao Huang;  Li-Hua Zhang;  Mei-Fang Li;  Lin Cheng;  Guo-Ying Zou
收藏  |  浏览/下载：2/0  |  提交时间：2019/12/13
A novel splice-site mutation in the ATP2C1 gene of a Chinese family with Hailey-Hailey disease. 期刊论文
Journal of cellular biochemistry, 2019, 卷号: Vol.120 No.3, 页码: 3630-3636
作者:  Heng Xiao;  Xiangjun Huang;  Hongbo Xu;  Xiang Chen;  Wei Xiong
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/13
Mutation and association analyses of dementia-causal genes in Han Chinese patients with early-onset and familial Alzheimer's disease 期刊论文
JOURNAL OF PSYCHIATRIC RESEARCH, 2019, 卷号: 113, 页码: 141-147
作者:  Xu, M;  Feng, T;  Yao, YG;  Shan, BC;  Tan, LW
收藏  |  浏览/下载：245/0  |  提交时间：2019/06/14
A novel splice-site mutation in the ATP2C1 gene of a Chinese family with Hailey-Hailey disease. 期刊论文
Journal of Cellular Biochemistry, 2019, 卷号: 120, 期号: 3, 页码: 3630-3636
作者:  Xiao, Heng;  Huang, Xiangjun;  Xu, Hongbo;  Chen, Xiang;  Xiong, Wei
收藏  |  浏览/下载：6/0  |  提交时间：2019/12/27
Complete androgen insensitivity syndrome caused by c.1769-1G > C mutation and activation of a cryptic splice acceptor site in the androgen receptor gene 期刊论文
STEROIDS, 2018, 卷号: 137
作者:  Li, Dejun;  Xu, Haikun;  Wang, Song;  Xia, Peng;  Catalano, Nicholas A.
收藏  |  浏览/下载：4/0  |  提交时间：2019/12/05

©版权所有 ©2017 CSpace - Powered by CSpace