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CORC

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Familial Hemiplegic Migraine Type 3 (FHM3) With an SCN1A Mutation in a Chinese Family: A Case Report 期刊论文
FRONTIERS IN NEUROLOGY, 2018, 卷号: 9
作者:  Shao, Na;  Zhang, Haining;  Wang, Xue;  Zhang, Wuqiong;  Yu, Miaomiao
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/05
The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population 期刊论文
CLINICAL GENETICS, 2017
Liu, A.; Xu, X.; Yang, X.; Jiang, Y.; Yang, Z.; Liu, X.; Wu, Y.; Wu, X.; Wei, L.; Zhang, Y.
收藏  |  浏览/下载：8/0  |  提交时间：2017/12/04
CRISPR/Cas9 facilitates investigation of neural circuit disease using human iPSCs: mechanism of epilepsy caused by an SCN1A loss-of-function mutation 期刊论文
Translational Psychiatry, 2016, 卷号: 6, 期号: 1, 页码: e703
作者:  Liu, J;  Gao, C;  Chen, W;  Ma, W;  Li, X
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/03
Clinical features of Dravet syndrome patients with SCN1A gene mutations 期刊论文
Journal of Xi'an Jiaotong University (Medical Sciences), 2016, 卷号: 37, 页码: 841-845
作者:  Li, Dan;  Huang, Shao-Ping;  Song, Ting-Ting;  Yang, Lin;  Yang, Chang-Hong
收藏  |  浏览/下载：8/0  |  提交时间：2019/11/26
CRISPR/Cas9 facilitates investigation of neural circuit disease using human iPSCs: mechanism of epilepsy caused by an SCN1A loss-of-function mutation 期刊论文
TRANSLATIONAL PSYCHIATRY, 2016, 卷号: 6
Liu, J.; Gao, C.; Chen, W.; Ma, W.; Li, X.; Shi, Y.; Zhang, H.; Zhang, L.; Long, Y.; Xu, H.; Guo, X.; Deng, S.; Yan, X.; Yu, D.; Pan, G.; Chen, Y.; Lai, L.; Liao, W.; Li, Z.
收藏  |  浏览/下载：32/0  |  提交时间：2016/12/16
CRISPR/Cas9 facilitates investigation of neural circuit disease using human iPSCs: mechanism of epilepsy caused by an SCN1A loss-of-function mutation 期刊论文
TRANSLATIONAL PSYCHIATRY, 2016, 卷号: 6
作者:  Li, Z.;  Liu, J.;  Gao, C.;  Chen, W.;  Ma, W.
收藏  |  浏览/下载：17/0  |  提交时间：2018/12/13
The SCN1A Mutation Database: Updating Information and Analysis of the Relationships among Genotype, Functional Alteration, and Phenotype 期刊论文
2015, 卷号: 36, 期号: [db:dc_citation_issue], 页码: 573
作者:  Meng, Heng[1,2,3,4];  Xu, Hai-Qing[1,2,3];  Yu, Lu[1,2,3];  Lin, Guo-Wang[1,2,3];  He, Na[1,2,3]
收藏  |  浏览/下载：7/0  |  提交时间：2019/12/03
Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome 期刊论文
HUMAN MUTATION, 2015
Xu, Xiaojing; Yang, Xiaoxu; Wu, Qixi; Liu, Aijie; Yang, Xiaoling; Ye, Adam Yongxin; Huang, August Yue; Li, Jiarui; Wang, Meng; Yu, Zhe; Wang, Sheng; Zhang, Zhichao; Wu, Xiru; Wei, Liping; Zhang, Yuehua
收藏  |  浏览/下载：5/0  |  提交时间：2017/12/03
Generation of the SCN1A epilepsy mutation in hiPS cells using the TALEN technique 期刊论文
Scientific Reports, 2014, 卷号: 4, 页码: 5404
作者:  Chen, Wanjuan;  Liu, Jingxin;  Zhang, Longmei;  Xu, Huijuan;  Guo, Xiaogang
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/03
Postzygotic single-nucleotide mosaicisms in whole-genome sequences of clinically unremarkable individuals 期刊论文
细胞研究英文版, 2014
Huang, August Y.; Xu, Xiaojing; Ye, Adam Y.; Wu, Qixi; Yan, Linlin; Zhao, Boxun; Yang, Xiaoxu; He, Yao; Wang, Sheng; Zhang, Zheng; Gu, Bowen; Zhao, Han-Qing; Wang, Meng; Gao, Hua; Gao, Ge; Zhang, Zhichao; Yang, Xiaoling; Wu, Xiru; Zhang, Yuehua; Wei, Liping
收藏  |  浏览/下载：6/0  |  提交时间：2015/11/11

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