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科研机构
清华大学 [2]
北京大学 [2]
中南大学 [2]
中国医学科学院 北京... [2]
昆明动物研究所 [2]
中国科学院大学 [1]
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期刊论文 [12]
其他 [2]
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Mutation profile of FLNC gene and its prognostic relevance in patients with hypertrophic cardiomyopathy
期刊论文
2018, 卷号: 6, 期号: 6, 页码: 1104-1113
作者:
Cui, Hao
;
Wang, Jizheng
;
Zhang, Ce
;
Wu, Cuixin
;
Zhu, Changsheng
收藏
  |  
浏览/下载:10/0
  |  
提交时间:2020/01/03
FLNC mutation
hypertrophic cardiomyopathy
penetrance
prognosis
Hypermethylation of BMPR2 Promoter Occurs in Patients with Heritable Pulmonary Arterial Hypertension and Inhibits BMPR2 Expression
期刊论文
2017, 卷号: 196, 期号: 7, 页码: 925-928
作者:
Liu Dong
;
Yan Yi
;
Chen Ji-Wang
;
Yuan Ping
;
Wang Xiao-Jian
收藏
  |  
浏览/下载:2/0
  |  
提交时间:2020/01/04
bone morphogenetic protein receptor type 2
heritable pulmonary arterial hypertension
methylation
penetrance
A novel mutation of GATA4 (K300T) associated with familial atrial septal defect
期刊论文
GENE, 2016, 卷号: 575, 期号: 2
作者:
Liu, Wei
;
Chen, Jia
;
Qi, Bingyang
;
Zhao, Juan
;
Duan, Ranhui
收藏
  |  
浏览/下载:5/0
  |  
提交时间:2019/12/05
Ventricular septal defect
Incomplete penetrance
Whole exome sequencing
Post-translational modification
Methylation
Accurately annotate genetic variants
其他
2016-01-01
Si-Jin Cheng
;
Fang-Yuan Shi
;
Huan Liu
;
Yang Ding
;
Shuai Jiang
;
Ge Gao
收藏
  |  
浏览/下载:4/0
  |  
提交时间:2017/12/03
Genetic variants annotation Loss-of-function variants Penetrance Web server
Accurately annotate genetic variants
其他
2016-01-01
Si-Jin Cheng
;
Fang-Yuan Shi
;
Huan Liu
;
Yang Ding
;
Shuai Jiang
;
Ge Gao
收藏
  |  
浏览/下载:4/0
  |  
提交时间:2017/12/03
Genetic variants annotation
Loss-of-function variants
Penetrance
Web server
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
Identification of mitochondrial DNA ND1 T3866C mutation in three ethnic Han Chinese families affected with Leber's hereditary optic neuropathy
期刊论文
Chinese Journal of Medical Genetics, 2015, 卷号: 32, 期号: 2
作者:
Zhang, Sai/56086569700[0]
;
Gao, Min/56661637500[1]
;
Zhang, Zengjun/56661553900[2]
;
Liu, Xiaoling/55717497500[3]
;
Guan, Minxin/35233690800[4]
收藏
  |  
浏览/下载:2/0
  |  
提交时间:2019/12/19
Leber's hereditary optic neuropathy
Matrilineal relative
Mitochondrial DNA
Penetrance
Proband
Penetrance of LRRK2 G2385R and R1628P is modified by common PD-associated genetic variants
期刊论文
Parkinsonism and Related Disorders, 2012, 卷号: 18, 期号: 8, 页码: 958-963
作者:
Wang, Chaodong
;
Cai, Yanning
;
Zheng, Zheng
;
Tang, Bei-Sha
;
Xu, Yanming
收藏
  |  
浏览/下载:4/0
  |  
提交时间:2019/12/03
Parkinson's disease
Penetrance
LRRK2
Genetic variants
Association
Penetrance of lrrk2 g2385r and r1628p is modified by common pd-associated genetic variants.
期刊论文
Parkinsonism and Related Disorders, 2012, 卷号: Vol.18
作者:
Wang, CD
;
Cai, YN
;
Zheng, Z
;
Tang, BS
;
Xu, YM
收藏
  |  
浏览/下载:3/0
  |  
提交时间:2019/02/25
Parkinson\'s disease
Penetrance
LRRK2
Genetic variants
Association
Main-Effects Model Is a Special Kind of Additive Model in the Presence of Linkage Disequilibrium
期刊论文
2010, 2010
Zhang, Yulong
;
Ji, Liang
收藏
  |  
浏览/下载:2/0
  |  
提交时间:2017/06/15
Statistical epistasis
Binary trait
Penetrance
Two-locus models
Variance components
QUANTITATIVE TRAIT LOCI
COMPLEX DISEASES
EPISTATIC INTERACTIONS
STATISTICAL EPISTASIS
GENETIC ASSOCIATION
VARIANCE
STRATEGIES
INFERENCE
SYSTEMS
LIMITS
Genetics & Heredity
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