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CORC

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Adult-onset vanishing white matter disease with the EIF2B2 gene mutation presenting as menometrorrhagia 期刊论文
2019, 卷号: 19, 期号: 1, 页码: 203
作者:  Wei Cuibai;  Qin Qi;  Chen Fei;  Zhou Aihong;  Wang Fen
收藏  |  浏览/下载：3/0  |  提交时间：2020/01/03
The analysis of genetic and clinicopathologic characteristics in patients with follicular thyroid neoplasm 期刊论文
2019, 卷号: 41, 期号: 8, 页码: 594-598
作者:  Zhang J;  Li Y;  Lyu N;  Ying J M
收藏  |  浏览/下载：2/0  |  提交时间：2020/01/03
Germline and somatic mutations of multi-gene panel in Chinese patients with epithelial ovarian cancer: a prospective cohort study 期刊论文
2019, 卷号: 12, 期号: 1, 页码: 80
作者:  Li Wenhui;  Shao Di;  Li Lei;  Wu Ming;  Ma Shuiqing
收藏  |  浏览/下载：23/0  |  提交时间：2020/01/03
A novel mutation of the PAX3 gene in a Chinese family with Waardenburg syndrome type I 期刊论文
2019, 卷号: 7, 期号: 7, 页码: e798
作者:  Ma, Jing;  Lin, Ken;  Jiang, Hong-chao;  Yang, Yanli;  Zhang, Yu
收藏  |  浏览/下载：17/0  |  提交时间：2020/01/03
Real-world data on EGFR/ALK gene status and first-line targeted therapy rate in newly diagnosed advanced non-small cell lung cancer patients in Northern China: A prospective observational study 期刊论文
2019, 卷号: 10, 期号: 7, 页码: 1521-1532
作者:  Liang Hongge;  Song Xia;  Zhang Yuhui;  Zhang Shucai;  Li Fang
收藏  |  浏览/下载：31/0  |  提交时间：2020/01/03
Whole-genome sequencing reveals distinct genetic bases for insulinomas and non-functional pancreatic neuroendocrine tumours: leading to a new classification system 期刊论文
2019
作者:  Hong Xiafei;  Qiao Sitan;  Li Fuqiang;  Wang Wenze;  Jiang Rui
收藏  |  浏览/下载：99/0  |  提交时间：2020/01/03
A novel mutation associated with Type III Bartter syndrome: A report of five cases 期刊论文
2019, 卷号: 20, 期号: 1, 页码: 65-72
作者:  Li, Yanhan;  Wu, Chengcheng;  Gu, Jie;  Li, Dong;  Yang, Yanling
收藏  |  浏览/下载：11/0  |  提交时间：2020/01/03
Gene spectrum analysis of thalassemia for people residing in northern China 期刊论文
2019, 卷号: 20, 期号: 1, 页码: 86
作者:  Yang, Zhuo;  Zhou, Wenzhe;  Cui, Quexuan;  Qiu, Ling;  Han, Bing
收藏  |  浏览/下载：2/0  |  提交时间：2020/01/03
Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a novel nonsense mutation in AVP-NPII gene 期刊论文
2019, 卷号: 18, 期号: 2, 页码: 1309-1314
作者:  Yang, Hongbo;  Yan, Kemin;  Wang, Linjie;  Gong, Fengying;  Jin, Zimeng
收藏  |  浏览/下载：3/0  |  提交时间：2020/01/03
Establishment of an induced pluripotent stem cell line (FDEENTi002-A) from a patient with Best's disease carrying c.888C > A mutation in BEST1 gene 期刊论文
2019, 卷号: 38, 页码: 101459
作者:  Bai, Xinyue;  Yang, Xian-Jie;  Chen, Ling
收藏  |  浏览/下载：2/0  |  提交时间：2020/01/03

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