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中国医学科学院 北京... [3]
四川大学 [2]
中南大学 [2]
复旦大学上海医学院 [1]
内容类型
期刊论文 [7]
会议论文 [1]
发表日期
2015 [8]
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Novel BCOR mutation in a boy with Lenz microphthalmia/oculo-facio-cardio-dental (OFCD) syndrome
期刊论文
Gene, 2015, 卷号: 571, 期号: 1, 页码: 142-144
作者:
Zhu, Xin
;
Dai, Fu-Rong
;
Wang, Jian
;
Zhang, Yu
;
Tan, Zhi-Ping
收藏
  |  
浏览/下载:4/0
  |  
提交时间:2019/12/03
BCL-6 interacting repressor
Congenital heart defect
Dextrocardia
LMS
Lenz microphthalmia syndrome
OFCD syndrome
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
Maternal lead exposure and risk of congenital heart defects occurrence in offspring
期刊论文
Reproductive Toxicology, 2015, 卷号: Vol.51, 页码: 1-6
作者:
Zhen Liu
;
Yu Yu
;
Xiaohong Li
;
Aimin Wu
;
Mingdao Mu
收藏
  |  
浏览/下载:9/0
  |  
提交时间:2019/02/25
Congenital heart defect
Lead exposure
Embryo toxicity
Cardiac development
Birth defects
Biomarker.
Fetal echocardiography for congenital heart disease diagnosis: a meta-analysis, power analysis and missing data analysis
期刊论文
European Journal of Preventive Cardiology, 2015, 卷号: Vol.22 No.12, 页码: 1531-1547
作者:
Liu, H
;
Zhou, J
;
Feng, QL
;
Gu, HT
;
Wan, G
收藏
  |  
浏览/下载:3/0
  |  
提交时间:2019/02/25
Heart defect
congenital
echocardiography
fetus
pediatrics
Effects of preconception risk intervention for the prevention of fetal congenital heart defect in Chinese rural areas: Community-based cross sectional study
期刊论文
International Journal of Gynecology and Obstetrics, 2015
作者:
Zhou Q., Wang Q., Shen H., Tian W., Dong X., Zhang S., Li X.
收藏
  |  
浏览/下载:1/0
  |  
提交时间:2019/12/19
Biventricular repair for double outlet right ventricle with non-committed ventricular septal defect
会议论文
28th Annual Meeting of the European-Association-for-Cardio-Thoracic-Surgery, Milan, ITALY, 2015-10-01
作者:
Li, Shoujun
;
Ma, Kai
;
Hu, Shengshou
;
Hua, Zhongdong
;
Yan, Jun
收藏
  |  
浏览/下载:13/0
  |  
提交时间:2020/01/13
Congenital heart disease
Double outlet right ventricle
Non-committed ventricular septal defect
Biventricular repair
Intracardiac tunnel
Biventricular repair for double outlet right ventricle with non-committed ventricular septal defect
期刊论文
2015, 卷号: 48, 期号: 4, 页码: 580-587
作者:
Li, Shoujun
;
Ma, Kai
;
Hu, Shengshou
;
Hua, Zhongdong
;
Yan, Jun
收藏
  |  
浏览/下载:3/0
  |  
提交时间:2020/01/13
Congenital heart disease
Double outlet right ventricle
Non-committed ventricular septal defect
Biventricular repair
Intracardiac tunnel
Human Lung microRNA Profiling in Pulmonary Arterial Hypertension Secondary to Congenital Heart Defect
期刊论文
2015, 卷号: 50, 期号: 12, 页码: 1214-1223
作者:
Ma, Kai
;
Zhao, Qian
;
Chen, Weidan
;
Zhang, Hao
;
Li, Shoujun
收藏
  |  
浏览/下载:2/0
  |  
提交时间:2020/01/13
pulmonary arterial hypertension
congenital heart defects
microRNA
Notch1
molecular biology
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