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复旦大学上海医学院 [4]
北京大学 [3]
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期刊论文 [12]
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Data on mutations and Clinical features in SCN1A or SCN2A gene
期刊论文
DATA IN BRIEF, 2019, 卷号: 22
作者:
Kong, Yanting
;
Yan, Kai
;
Hu, Liyuan
;
Wang, Mingbang
;
Dong, Xinran
收藏
  |  
浏览/下载:30/0
  |  
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
clinical manifestation
Dravet syndrome
epilepsy
females
fever
PCDH19
PROTOCADHERIN 19 MUTATIONS
MENTAL-RETARDATION
LIMITED EPILEPSY
ONSET EPILEPSY
DE-NOVO
ENCEPHALOPATHY
INHERITANCE
FEVER
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
Dravet syndrome
Epilepsy
Mutation
SCN1A gene
ABCB1, ABCC2, SCN1A, SCN2A, GABRA1 gene polymorphisms and drug resistant epilepsy in the Chinese Han population
期刊论文
Pharmazie, 2015, 卷号: 70, 期号: 6, 页码: 416-420
作者:
Zhou, Luo
;
Cao, Yuze
;
Long, Hongyu
;
Long, Lili
;
Xu, Lin
收藏
  |  
浏览/下载:3/0
  |  
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
de novo
mosaic
Dravet syndrome
SCN1A
next-generation sequencing
somatic mutation
SEVERE MYOCLONIC EPILEPSY
AUTISM SPECTRUM DISORDERS
HUMAN GENETIC-DISEASE
SOMATIC MOSAICISM
MISSENSE MUTATION
FEBRILE SEIZURES
POINT MUTATIONS
DENOVO MUTATION
MARFAN-SYNDROME
ALPORT-SYNDROME
SCN1A, ABCC2 and UGT2B7 gene polymorphisms in association with individualized oxcarbazepine therapy
期刊论文
PHARMACOGENOMICS, 2015, 卷号: 16, 期号: 4
作者:
Ma, Chun-Lai
;
Wu, Xun-Yi
;
Jiao, Zheng
;
Hong, Zhen
;
Wu, Zhi-Yuan
收藏
  |  
浏览/下载:4/0
  |  
提交时间:2019/12/19
ABCC2
epilepsy
genetic polymorphisms
oxcarbazepine
SCN1A
SCN2A
UGT2B7
Association between PK/PD-involved gene polymorphisms and carbamazepine-individualized therapy
期刊论文
PHARMACOGENOMICS, 2015, 卷号: 16, 期号: 13
作者:
Ma, Chun-Lai
;
Jiao, Zheng
;
Wu, Xun-Yi
;
Hong, Zhen
;
Wu, Zhi-Yuan
收藏
  |  
浏览/下载:1/0
  |  
提交时间:2019/12/19
ABCC2
carbamazepine
carbamazepine 10,11-epoxide
EPHX1
epilepsy
genetic polymorphisms
SCN1A
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
single-nucleotide mutation
postzygotic mosaicism
Dravet syndrome
next-generation sequencing
Bayesian model
DETECTABLE CLONAL MOSAICISM
SOMATIC MUTATIONS
DRAVET SYNDROME
MATERNAL MICROCHIMERISM
SENSITIVE DETECTION
HUMAN TISSUES
PIK3CA CAUSE
HUMAN BRAIN
CANCER
DISEASE
Association of SCN1A, SCN2A and ABCC2 gene polymorphisms with the response to antiepileptic drugs in Chinese Han patients with epilepsy
期刊论文
PHARMACOGENOMICS, 2014, 卷号: 15, 期号: 10
作者:
Ma, Chun-Lai
;
Wu, Xun-Yi
收藏
  |  
浏览/下载:1/0
  |  
提交时间:2019/12/19
ABCC2
antiepileptic drugs
drug resistance
epilepsy
pharmacogenomics
SCN1A
SCN2A
single nucleotide polymorphism
Comprehensive analysis of the association of SCN1A gene polymorphisms with the retention rate of carbamazepine following monotherapy for new‐onset focal seizures in the Chinese Han population
期刊论文
Clinical and Experimental Pharmacology and Physiology, 2012, 卷号: 39, 期号: 4, 页码: 379-384
作者:
Zhou, Bo-Ting
;
Zhou, Qiu-Hong
;
Yin, Ji-Ye
;
Li, Guo-Liang
;
Xu, Xiao-Jing
收藏
  |  
浏览/下载:1/0
  |  
提交时间:2019/12/03
carbamazepine
epilepsy
genetic polymorphism
retention rate
SCN1A
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