×
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
复旦大学上海医学院 [8]
北京大学 [4]
自动化研究所 [1]
四川大学 [1]
中南大学 [1]
华南理工大学 [1]
更多...
内容类型
期刊论文 [18]
会议 [1]
会议论文 [1]
其他 [1]
学位论文 [1]
发表日期
2019 [2]
2018 [3]
2017 [1]
2016 [2]
2015 [3]
2014 [5]
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22条,第1-10条
帮助
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
The Clinical and Genetic Features of Co-occurring Epilepsy and Autism Spectrum Disorder in Chinese Children
期刊论文
FRONTIERS IN NEUROLOGY, 2019, 卷号: 10
作者:
Long, Shasha
;
Zhou, Hao
;
Li, Shuang
;
Wang, Tianqi
;
Ma, Yu
收藏
  |  
浏览/下载:30/0
  |  
提交时间:2019/12/05
epilepsy
ASD
whole exome sequencing
copy number variants
voltage-gated ion channel gene
epilepsy syndrome
Identification of Prognostic Signatures for Predicting the Overall Survival of Uveal Melanoma Patients
期刊论文
JOURNAL OF CANCER, 2019, 卷号: 10, 期号: 20
作者:
Xue, Meijuan
;
Shang, Jun
;
Chen, Binglin
;
Yang, Zuyi
;
Song, Qian
收藏
  |  
浏览/下载:33/0
  |  
提交时间:2019/12/05
Uveal melanoma
Prognosis
Gene mutations
Copy number variants
Whole-genome sequencing of a monozygotic twin discordant for systemic lupus erythematosus
期刊论文
MOLECULAR MEDICINE REPORTS, 2018, 卷号: 17, 期号: 6
作者:
Chen, Fei
;
Li, Zhen
;
Li, Rong
;
Li, Yunlong
收藏
  |  
浏览/下载:4/0
  |  
提交时间:2019/12/04
systemic lupus erythematosus
monozygotic twin
variants
copy number variations
Integrated analysis of the impact of age on genetic and clinical aspects of hepatocellular carcinoma
期刊论文
AGING-US, 2018, 卷号: 10, 期号: 8
作者:
Atyah, Manar
;
Yin, Yi-Rui
;
Zhou, Chen-Hao
;
Zhou, Qiang
;
Chen, Wan-Yong
收藏
  |  
浏览/下载:1/0
  |  
提交时间:2019/12/05
Hepatocellular Carcinoma
m RNA expression
gene mutation
Copy Number Variants
AKR1B10
aging
Prospective chromosome analysis of 3429 amniocentesis samples in China using copy number variation sequencing.
期刊论文
American journal of obstetrics and gynecology, 2018
作者:
Wang Jing
;
Chen Lin
;
Zhou Cong
;
Wang Li
;
Xie Hanbin
收藏
  |  
浏览/下载:71/0
  |  
提交时间:2019/02/28
amniocentesis
aneuploidy
chromosome
anomalies
copy
number
variation
sequencing
(CNV-Seq)
invasive
prenatal
diagnosis
(IPD)
microdeletions
microduplications
variants
of
uncertain
significance
(VUS)
SVmine improves structural variation detection by integrative mining of predictions from multiple algorithms
其他
2017-01-01
Xia, Yuchao
;
Liu, Yun
;
Deng, Minghua
;
Xi, Ruibin
收藏
  |  
浏览/下载:5/0
  |  
提交时间:2017/12/03
COPY NUMBER VARIATION
PAIRED-END
HUMAN-DISEASE
GENOME
REARRANGEMENTS
MECHANISMS
SIMULATION
ALIGNMENT
VARIANTS
IDENTIFY
Genome-wide copy number variant analysis for congenital ventricular septal defects in Chinese Han population
期刊论文
BMC MEDICAL GENOMICS, 2016, 卷号: 9
作者:
An, Yu
;
Duan, Wenyuan
;
Huang, Guoying
;
Chen, Xiaoli
;
Li, Li
收藏
  |  
浏览/下载:5/0
  |  
提交时间:2019/12/05
Ventricular septal defect
aCGH
Congenital heart defect
Copy number variants
Fluorescence In situ Hybridization: Cell-Based Genetic Diagnostic and Research Applications
期刊论文
2016, 卷号: 4
作者:
Cui, Chenghua
;
Shu, Wei
;
Li, Peining
收藏
  |  
浏览/下载:3/0
  |  
提交时间:2020/01/04
fluorescence in situ hybridization (FISH)
genetic diagnosis
aneuploidy
pathogenic copy number variants (CNV)
microdeletion/microduplication syndromes
Cas-9 mediated FISH (CASFISH)
oligopaint-FISH
single molecule RNA FISH (smRNA-FISH)
Schizophrenia Related Variants in CACNA1C also Confer Risk of Autism
期刊论文
PLOS ONE, 2015
Li, Jun
;
Zhao, Linnan
;
You, Yang
;
Lu, Tianlan
;
Jia, Meixiang
;
Yu, Hao
;
Ruan, Yanyan
;
Yue, Weihua
;
Liu, Jing
;
Lu, Lin
;
Zhang, Dai
;
Wang, Lifang
收藏
  |  
浏览/下载:6/0
  |  
提交时间:2017/12/03
GENOME-WIDE ASSOCIATION
SCAFFOLDING PROTEIN SHANK3
COMMON GENETIC-VARIANTS
DE-NOVO MUTATIONS
BIPOLAR DISORDER
SPECTRUM DISORDERS
ASPERGER-SYNDROME
SUBUNIT GENE
COPY NUMBER
CONNECTIVITY
The complex genetics in autism spectrum disorders
期刊论文
SCIENCE CHINA-LIFE SCIENCES, 2015
Hua Rui
;
Wei MengPing
;
Zhang Chen
收藏
  |  
浏览/下载:5/0
  |  
提交时间:2017/12/03
autism spectrum disorders
genetics
causative genes
copy number variants
FRAGILE-X-SYNDROME
METABOTROPIC GLUTAMATE-RECEPTOR
MENTAL-RETARDATION PROTEIN
ENCODING NEUROLIGINS NLGN3
MOUSE MODEL
RETT-SYNDROME
ANGELMAN-SYNDROME
OXIDATIVE STRESS
ALZHEIMERS-DISEASE
GABA(A) RECEPTOR
©版权所有 ©2017 CSpace - Powered by
CSpace