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Identification of gene mutations in patients with primary periodic paralysis using targeted next-generation sequencing 期刊论文
BMC NEUROLOGY, 2019, 卷号: 19
作者:  Dou, Tonghai;  Luo, Sushan;  Xu, Minjie;  Sun, Jian;  Qiao, Kai
收藏  |  浏览/下载：23/0  |  提交时间：2019/12/05
Transduction of Adeno-Associated Virus Vectors Targeting Hair Cells and Supporting Cells in the Neonatal Mouse Cochlea 期刊论文
FRONTIERS IN CELLULAR NEUROSCIENCE, 2019, 卷号: 13
作者:  Dong, Biao;  Shu, Yilai;  Huang, Xinsheng;  Li, Huawei;  Gu, Xi
收藏  |  浏览/下载：27/0  |  提交时间：2019/12/05
Missense mutations in LAMA2 causing a new phenotype of mild cognitive impairment proximal myopathy, seizure, and severe leukoencephalopathy: A case report and protein analysis 期刊论文
CLINICAL NEUROPATHOLOGY, 2019, 卷号: 38, 期号: 3
作者:  Ding, Man;  Wang, Xi;  Zeng, Yanping;  Lu, Zuneng;  Cai, Shuang
收藏  |  浏览/下载：36/0  |  提交时间：2019/12/05
GNE myopathy in Chinese population: hotspot and novel mutations (vol 64, pg 11, 2018) 期刊论文
JOURNAL OF HUMAN GENETICS, 2019, 卷号: 64, 期号: 3
作者:  Chen, Yang;  Xi, Jianying;  Zhu, Wenhua;  Lin, Jie;  Luo, Sushan
收藏  |  浏览/下载：25/0  |  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
Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes 期刊论文
NEUROLOGY-GENETICS, 2019, 卷号: 5, 期号: 2
作者:  Sun, Chong;  Song, Jie;  Jiang, Yanjun;  Zhao, Chongbo;  Lu, Jiahong
收藏  |  浏览/下载：29/0  |  提交时间：2019/12/05
Characteristics and Workload of Pediatricians in China 期刊论文
PEDIATRICS, 2019, 卷号: 144, 期号: 1
作者:  Zhang, Yongjun;  Huang, Lisu;  Zhou, Xin;  Zhang, Xi;  Ke, Zheng
收藏  |  浏览/下载：55/0  |  提交时间：2019/12/05
GNE myopathy in Chinese population: hotspot and novel mutations 期刊论文
JOURNAL OF HUMAN GENETICS, 2019, 卷号: 64, 期号: 1
作者:  Chen, Yang;  Xi, Jianying;  Zhu, Wenhua;  Li, Jie;  Luo, Sushan
收藏  |  浏览/下载：27/0  |  提交时间：2019/12/05
Solid Fuel Use and Risks of Respiratory Diseases A Cohort Study of 280,000 Chinese Never-Smokers 期刊论文
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2019, 卷号: 199, 期号: 3
作者:  Chan, Ka Hung;  Kurmi, Om P.;  Bennett, Derrick A.;  Yang, Ling;  Chen, Yiping
收藏  |  浏览/下载：130/0  |  提交时间：2019/12/05
Isoelectric focusing array with immobilized pH gradient and dynamic scanning imaging for diabetes diagnosis 期刊论文
ANALYTICA CHIMICA ACTA, 2019, 卷号: 1063
作者:  Li, Guo-Qing;  Li, Hong-Gen;  Dong, Fang-Fang;  Bi, Yu-Fang;  Zhang, Qiang
收藏  |  浏览/下载：18/0  |  提交时间：2019/12/05

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