×
验证码:
换一张
忘记密码?
记住我
CORC
首页
科研机构
检索
知识图谱
申请加入
托管服务
登录
注册
在结果中检索
科研机构
中南大学 [9]
内容类型
期刊论文 [9]
发表日期
2018 [1]
2016 [2]
2015 [2]
2014 [2]
2011 [1]
2010 [1]
更多...
×
知识图谱
CORC
开始提交
已提交作品
待认领作品
已认领作品
未提交全文
收藏管理
QQ客服
官方微博
反馈留言
浏览/检索结果:
共9条,第1-9条
帮助
限定条件
专题:中南大学
第一署名单位
第一作者单位
通讯作者单位
已选(
0
)
清除
条数/页:
5
10
15
20
25
30
35
40
45
50
55
60
65
70
75
80
85
90
95
100
排序方式:
请选择
作者升序
作者降序
题名升序
题名降序
发表日期升序
发表日期降序
提交时间升序
提交时间降序
Effect of Damaging Rare Mutations in Synapse-Related Gene Sets on Response to Short-term Antipsychotic Medication in Chinese Patients With Schizophrenia: A Randomized Clinical Trial.
期刊论文
JAMA Psychiatry, 2018, 卷号: 75, 期号: 12, 页码: 1261-1269
作者:
Wang, Qiang
;
Wu, Hei Man
;
Yue, Weihua
;
Yan, Hao
;
Zhang, Yamin
收藏
  |  
浏览/下载:27/0
  |  
提交时间:2019/12/03
ampa receptors
antipsychotic agents
n-methyl-d-aspartate receptors
pharmacogenetics
schizophrenia
whole exome sequencing
AKAP2 identified as a novel gene mutated in a Chinese family with adolescent idiopathic scoliosis
期刊论文
Journal of Medical Genetics, 2016, 卷号: 53, 期号: 7, 页码: 488-493
作者:
Li, Wei
;
Li, YaWei
;
Zhang, Lusi
;
Guo, Hui
;
Tian, Di
收藏
  |  
浏览/下载:5/0
  |  
提交时间:2019/12/03
*AKAP2
*adolescent idiopathic scoliosis
*whole-exome sequencing
Inferring the progression of multifocal liver cancer from spatial and temporal genomic heterogeneity.
期刊论文
Oncotarget, 2016, 卷号: 7, 期号: 3, 页码: 2867-2877
作者:
Shi, Jie-Yi
;
Xing, Qingfeng
;
Duan, Meng
;
Wang, Zhi-Chao
;
Yang, Liu-Xiao
收藏
  |  
浏览/下载:6/0
  |  
提交时间:2019/12/03
FAT4
hepatocellular carcinoma
intratumor heterogeneity
multifocal tumors
whole-exome sequencing
A novel mutation of GATA4 (K300T) associated with familial atrial septal defect
期刊论文
Gene, 2015, 卷号: 575, 期号: 2, 页码: 473-477
作者:
Chen, Jia
;
Qi, Bingyang
;
Zhao, Juan
;
Liu, Wei
;
Duan, Ranhui*
收藏
  |  
浏览/下载:9/0
  |  
提交时间:2019/12/03
CHD
congenital heart diseases
ToF
tetralogy of Fallot
ASD
atrial septal defect
VSD
ventricular septal defect
AVSD
atrioventricular septal defect
DCM
dilated cardiomyopathy
HGMD
human gene mutation database
dbSNP
database of Single Nucleotide Polymorphisms
EVSD
Exome Variant Server Database
NLS
nuclear localization signal
SNP
Single nucleotide polymorphism
GATK
Genome Analysis Toolkit
PolyPhen-2
Polymorphism Phenotyping v2
SIFT
Sorting Intolerant From Tolerant
TAD
transcription activation domain
N-Znf
N-terminal zinc finger
C-Znf
C-terminal zinc finger
Ventricular septal defect
Incomplete penetrance
Whole exome sequencing
Post-translational modification
Methylation
Mutations of P4HA2 encoding prolyl 4-hydroxylase 2 are associated with nonsyndromic high myopia
期刊论文
Genetics in Medicine, 2015, 卷号: 17, 期号: 4, 页码: 300-306
作者:
Guo, Hui
;
Tong, Ping
;
Liu, Yanling
;
Xia, Lu
;
Wang, Tianyun
收藏
  |  
浏览/下载:8/0
  |  
提交时间:2019/12/03
collagen hydroxylation
high myopia
P4HA2
whole-exome sequencing
Whole exome sequencing identifies a novel EMD mutation in a Chinese family with dilated cardiomyopathy
期刊论文
BMC Medical Genetics, 2014, 卷号: 15, 期号: 1, 页码: 77-
作者:
Zhang, Mingqiu
;
Chen, Jia
;
Si, Dayong
;
Zheng, Yu
;
Jiao, Haixu
收藏
  |  
浏览/下载:6/0
  |  
提交时间:2019/12/03
Dilated cardiomyopathy
EMD gene
Emery-Dreifuss muscular dystrophy
Novel mutation
Whole exome sequencing
A novel variant in TBX20 (p.D176N) identified by whole-exome sequencing in combination with a congenital heart disease related gene filter is associated with familial atrial septal defect
期刊论文
Journal of Zhejiang University. Science B, Biomedicine & Biotechnology, 2014, 卷号: 15, 期号: 9, 页码: 830-837
作者:
Liu Jijia
;
Fan Liangliang
;
Chen Jinlan
;
Tan Zhiping
;
Yang Yifeng
收藏
  |  
浏览/下载:5/0
  |  
提交时间:2019/12/03
Congenital heart disease (CHD)
Atrial septal defect (ASD)
Whole-exome sequencing
CHD-related gene filter
TBX20
Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias
期刊论文
Brain, 2011, 卷号: 134, 期号: 12, 页码: 3490-3498
作者:
Wang, Jun-Ling
;
Cao, Li
;
Li, Xun-Hua
;
Hu, Zheng-Mao
;
Li, Jia-Da
收藏
  |  
浏览/下载:12/0
  |  
提交时间:2019/12/03
proline-rich transmembrane protein 2
paroxysmal kinesigenic dyskinesias
whole-exome sequencing
linkage analysis
TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing
期刊论文
Brain, 2010, 卷号: 133, 期号: 12, 页码: 3510-3518
作者:
Wang, Jun Ling
;
Yang, Xu
;
Xia, Kun
;
Hu, Zheng Mao
;
Weng, Ling
收藏
  |  
浏览/下载:5/0
  |  
提交时间:2019/12/03
whole-exome sequencing
spinocerebellar ataxia
linkage analysis
TGM6
©版权所有 ©2017 CSpace - Powered by
CSpace