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中南大学 [11]
南华大学 [2]
吉林大学白求恩第三医... [2]
北京大学 [1]
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期刊论文 [16]
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2017 [1]
2016 [4]
2015 [1]
2014 [6]
2013 [2]
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浏览/检索结果:
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Intracellular and Extracellular Biosynthesis of Antibacterial Silver Nanoparticles by Using Pseudomonas aeruginosa
期刊论文
Journal of Nanoscience and Nanotechnology, 2017, 卷号: 17, 期号: 12, 页码: 9186-9191
作者:
Li, Shuihong*
;
Duan, Yuanrun
;
Li, Ranhui
;
Wang, Xuemei
收藏
  |  
浏览/下载:3/0
  |  
提交时间:2019/12/27
Antibacterial
Biosynthesis
Pseudomonas aeruginosa
Silver Nanoparticles
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
5-Hydroxymethylation-associated epigenetic modifiers of Alzheimer's disease modulate Tau-induced neurotoxicity
期刊论文
Human molecular genetics, 2016, 卷号: 25, 期号: 12, 页码: 2437-2450
作者:
Bernstein, Alison I
;
Lin, Yunting
;
Street, R Craig
;
Lin, Li
;
Dai, Qing
收藏
  |  
浏览/下载:5/0
  |  
提交时间:2019/12/03
Decreased expression of MicroRNA-200 family in human breast cancer is associated with lymph node metastasis
期刊论文
Clinical and Translational Oncology, 2016, 卷号: 18, 期号: 3, 页码: 283-288
作者:
Xu, Feng
;
He, Hua
;
Huang, Wen
;
Lin, Yunting
;
Luo, Shiyu
收藏
  |  
浏览/下载:2/0
  |  
提交时间:2019/12/03
Breast cancer
Clinicopathology
MicroRNA-200
Real-time quantitative PCR
UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia
期刊论文
PLOS ONE, 2016, 卷号: 11, 期号: 2, 页码: e0149039
作者:
Duan, Ranhui*
;
Shi, Yuting
;
Yu, Li
;
Zhang, Gehan
;
Li, Jia
收藏
  |  
浏览/下载:7/0
  |  
提交时间:2019/12/03
RNA interference,Drosophila melanogaster,Climbing,Ataxia,Atrophy,Cerebellar ataxia,Neuromuscular junctions,Phenotypes
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
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
作者:
Si, Dayong
;
Zhang, Mingqiu
;
Chen, Jia
;
Zheng, Yu
;
Jiao, Haixu
收藏
  |  
浏览/下载:7/0
  |  
提交时间:2019/12/05
Dilated cardiomyopathy
Emery-Dreifuss muscular dystrophy
EMD gene
Novel mutation
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
Towards Understanding RNA-Mediated Neurological Disorders
期刊论文
Journal of Genetics and Genomics, 2014, 卷号: 41, 期号: 9, 页码: 473-484
作者:
Duan Ranhui
;
Sharma Sumeet
;
Xia Qiuping
;
Garber Kathryn
;
Jin Peng
收藏
  |  
浏览/下载:3/0
  |  
提交时间:2019/12/03
Neurodegeneration
Repeat expansion
RNA toxicity
RAN translation
R-loop
Cryptic FMR1 mosaic deletion in a phenotypically normal mother of a boy with fragile X syndrome: case report
期刊论文
BMC Medical Genetics, 2014, 卷号: 15, 期号: 1, 页码: 125
作者:
Luo, Shiyu
;
Huang, Wen
;
Xia, Qiuping
;
Xia, Yan
;
Du, Qian
收藏
  |  
浏览/下载:13/0
  |  
提交时间:2019/12/03
Deletion
Fragile X syndrome
Mosaic
Somatic heterogeneity
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