CORC

在结果中检索

CORC

浏览/检索结果: 共52条，第1-10条 帮助

已选(0)清除 条数/页：   排序方式：
Androgen receptor gene mutations are associated with male infertility in Northeast China: Clinical features and identification of two novel mutations 期刊论文
ANDROLOGIA, 2019, 卷号: 51, 期号: 3
作者:  Li, Leilei;  Yang, Xiao;  Wang, Ruixue;  Liu, Xiaojun;  Yu, Yang
收藏  |  浏览/下载：30/0  |  提交时间：2019/12/05
Report of a Chinese Cohort with Leukocyte Adhesion Deficiency-I and Four Novel Mutations 期刊论文
JOURNAL OF CLINICAL IMMUNOLOGY, 2019, 卷号: 39, 期号: 3
作者:  Sun, Bijun;  Chen, Qiuyu;  Dong, Xiaolong;  Liu, Danru;  Hou, Jia
收藏  |  浏览/下载：29/0  |  提交时间：2019/12/05
Whole-exome sequencing identifies novel mutations in genes responsible for retinitis pigmentosa in 2 nonconsanguineous Chinese families 期刊论文
INTERNATIONAL JOURNAL OF OPHTHALMOLOGY, 2019, 卷号: 12, 期号: 6
作者:  Hu, Yan-Shan;  Song, Hui;  Li, Yin;  Xiao, Zi-Yun;  Li, Tuo
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/05
Novel non-synonymous mutations of PAX8 in a cohort of Chinese with congenital hypothyroidism 期刊论文
CHINESE MEDICAL JOURNAL, 2019, 卷号: 132, 期号: 11
作者:  Qian, Fang;  Li, Gui-Yu;  Wu, Xiang-Jun;  Jia, Qin;  Lyu, Guan-Ting
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/05
A novel heterozygous large deletion of MSH6 gene in a Chinese family with Lynch syndrome 期刊论文
GENE, 2019, 卷号: 704
作者:  Liu, Yuanyuan;  Wang, Mingwei;  Chen, Qiongrong;  Zheng, Qiaosong;  Li, Guangyu
收藏  |  浏览/下载：12/0  |  提交时间：2019/12/05
Review of 52 cases with Hailey-Hailey disease identified 25 novel mutations in Chinese Han population 期刊论文
JOURNAL OF DERMATOLOGY, 2019, 卷号: 46, 期号: 11, 页码: 1024-1026
作者:  Wang, Zhe;  Li, Lulu;  Sun, Lele;  Mi, Zihao;  Fu, Fanghui
收藏  |  浏览/下载：16/0  |  提交时间：2019/12/11
Two Novel CCM2 Heterozygous Mutations Associated with Cerebral Cavernous Malformation in a Chinese Family. 期刊论文
Journal of molecular neuroscience, 2019
作者:  Qin Du;  Ziyan Shi;  Hongxi Chen;  Ying Zhang;  Jiancheng Wang
收藏  |  浏览/下载：12/0  |  提交时间：2019/12/17
Whole-Exome Sequencing Enables the Diagnosis of Variant-Type Xeroderma Pigmentosum 期刊论文
FRONTIERS IN GENETICS, 2019, 卷号: 10
作者:  Fang, Xiaokai;  Sun, Yonghu
收藏  |  浏览/下载：7/0  |  提交时间：2019/12/11
Novel mutation of EDA causes new asymmetrical X-linked hypohidrotic ectodermal dysplasia phenotypes in a female 期刊论文
JOURNAL OF DERMATOLOGY, 2019, 卷号: 46, 期号: 8, 页码: 731-733
作者:  Shen, Lu;  LIu, Cenying;  Gao, Ming;  Li, Hongmei;  Zhang, Yaowen
收藏  |  浏览/下载：13/0  |  提交时间：2019/12/11
Germline mutation landscape of Chinese patients with familial breast/ovarian cancer in a panel of 22 susceptibility genes 期刊论文
2019, 卷号: 8, 期号: 5, 页码: 2074-2084
作者:  Wang, Jiayu;  Li, Weiwei;  Shi, Yujian;  Huang, Yan;  Sun, Tao
收藏  |  浏览/下载：28/0  |  提交时间：2020/01/03

©版权所有 ©2017 CSpace - Powered by CSpace