CORC

在结果中检索

CORC

浏览/检索结果: 共7条，第1-7条 帮助

已选(0)清除 条数/页：   排序方式：
Distal myopathy with rimmed vacuoles: Spectrum of GNE gene mutations in seven Chinese patients 期刊论文
EXPERIMENTAL AND THERAPEUTIC MEDICINE, 2018, 卷号: 16, 期号: 2
作者:  Wei, Xiaojing;  Su, Feifei;  Miao, Jing;  Liu, Xuemei;  Yu, Xuefan
收藏  |  浏览/下载：12/0  |  提交时间：2019/12/05
GNE myopathy caused by a synonymous mutation leading to aberrant mRNA splicing 期刊论文
NEUROMUSCULAR DISORDERS, 2018, 卷号: 28, 期号: 2
作者:  Zhu, Wenhua;  Eto, Masaki;  Mitsuhashi, Satomi;  Takata, Kazushiro;  Beck, Goichi
收藏  |  浏览/下载：7/0  |  提交时间：2019/12/05
Novel SEA and LG2 Agrin mutations causing congenital Myasthenic syndrome 期刊论文
ORPHANET JOURNAL OF RARE DISEASES, 2017, 卷号: 12
作者:  Zhao, Chongbo;  Xi, Jianying;  Yan, Chong;  Liu, Wei-Wei;  Qiao, Kai
收藏  |  浏览/下载：9/0  |  提交时间：2019/12/05
Muscle biopsy and UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene mutation analysis in two Chinese patients with distal myopathy with rimmed vacuoles 期刊论文
NEUROREPORT, 2015, 卷号: 26, 期号: 10
作者:  Liu, Nan;  Wang, Zhong-Kun;  Wang, Hai-Xia;  Li, Yan;  Niu, Zhen-Hua
收藏  |  浏览/下载：4/0  |  提交时间：2019/12/05
Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy 期刊论文
NEUROLOGY INDIA, 2014, 卷号: 62, 期号: 6
作者:  Xi, Jianying;  Blandin, Gaelle;  Lu, Jiahong;  Luo, Sushan;  Zhu, Wenhua
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/19
Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles. 期刊论文
Journal of human genetics, 2011, 卷号: 56, 期号: 4, 页码: 335-338
作者:  Li H;  Chen Q;  Liu F;  Zhang X;  Liu T
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/23
Apoptotic muscle fiber degeneration in distal myopathy with rimmed vacuoles 期刊论文
ACTA NEUROPATHOLOGICA, 2001, 卷号: 101, 期号: 1, 页码: 9-16
作者:  Yan, CZ;  Ikezoe, K;  Nonaka, I
收藏  |  浏览/下载：3/0  |  提交时间：2020/01/14

©版权所有 ©2017 CSpace - Powered by CSpace