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北京大学 [4]
上海神经科学研究所 [3]
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山东大学 [2]
湖南大学 [2]
厦门大学 [1]
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期刊论文 [17]
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Genetic testing for Prader-Willi syndrome and Angelman syndrome in the clinical practice of Guangdong Province, China
期刊论文
Molecular Cytogenetics, 2019, 卷号: Vol.12 No.1
作者:
Chang Liu
;
Xiangzhong Zhang
;
Jicheng Wang
;
Yan Zhang
;
Anshi Wang
收藏
  |  
浏览/下载:21/0
  |  
提交时间:2019/12/17
Prader-Willi
syndrome
Angelman
syndrome
Genetic
testing
Clinical
practice
Genetic testing for Prader-Willi syndrome and Angelman syndrome in the clinical practice of Guangdong Province, China.
期刊论文
Molecular cytogenetics, 2019, 卷号: Vol.12
作者:
Chang Liu
;
Xiangzhong Zhang
;
Jicheng Wang
;
Yan Zhang
;
Anshi Wang
收藏
  |  
浏览/下载:13/0
  |  
提交时间:2019/12/17
Angelman syndrome
Clinical practice
Genetic testing
Prader-Willi syndrome
HAP1 is an in vivo UBE3A target that augments autophagy in a mouse model of Angelman syndrome
期刊论文
NEUROBIOLOGY OF DISEASE, 2019, 卷号: 132, 页码: 104585
作者:
Wang, Tingting
;
Wang, Jingyu
;
Wang, Jie
;
Mao, Lin
;
Tang, Bin
收藏
  |  
浏览/下载:8/0
  |  
提交时间:2021/11/10
UBE3A
HAP1
Angelman syndrome
autophagy
SILAM
Proteome
Excessive UBE3A dosage impairs retinoic acid signaling and synaptic plasticity in autism spectrum disorders
期刊论文
CELL RESEARCH, 2018, 卷号: 28, 期号: 1, 页码: 48-68
作者:
Xu, Xingxing
;
Li, Chuanyin
;
Gao, Xiaobo
;
Li, Yali
;
Hao, Zijian
收藏
  |  
浏览/下载:54/0
  |  
提交时间:2019/04/28
Angelman Syndrome
Cell-lines
Gene Ube3a
Neuropsychiatric Phenotypes
Social-behavior
Ubiquitin
Mutations
Substrate
Proteins
E6-ap
Uniparental Disomy of Chromosome 15 in Two Cases by Chromosome Microarray: A Lesson Worth Thinking
期刊论文
CYTOGENETIC AND GENOME RESEARCH, 2017, 卷号: 152, 期号: 1, 页码: 1-8
作者:
Liu, Shu
;
Zhang, Kaihui
;
Song, Fengling
;
Yang, Yali
;
Lv, Yuqiang
收藏
  |  
浏览/下载:9/0
  |  
提交时间:2019/12/12
Angelman syndrome
Chromosome microarray analysis
Heterodisomy
Imprinted genes
Isodisomy
Prader-Willi syndrome
Uniparental disomy
Angelman Syndrome Protein Ube3a Regulates Synaptic Growth and Endocytosis by Inhibiting BMP Signaling in Drosophila
期刊论文
PLOS GENETICS, 2016, 卷号: 12, 期号: 5, 页码: e1006062
作者:
Li, WH
;
Yao, AY
;
Zhi, H
;
Kaur, K
;
Zhu, YC
收藏
  |  
浏览/下载:37/0
  |  
提交时间:2016/09/14
E3 UBIQUITIN LIGASE
NEUROMUSCULAR-JUNCTION
TRANSCRIPTION FACTOR
RETROGRADE SIGNAL
NERVOUS-SYSTEM
MOUSE MODEL
GENE UBE3A
EXPRESSION
MAD
DEGRADATION
Inability to activate Rac1-dependent forgetting contributes to behavioral inflexibility in mutants of multiple autism-risk genes
期刊论文
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2016
Dong, Tao
;
He, Jing
;
Wang, Shiqing
;
Wang, Lianzhang
;
Cheng, Yuqi
;
Zhong, Yi
收藏
  |  
浏览/下载:8/0
  |  
提交时间:2017/12/04
autism
forgetting
Rac1
behavioral flexibility
Drosophila
DE-NOVO MUTATIONS
TUBEROUS SCLEROSIS COMPLEX
LONG-TERM-MEMORY
SPECTRUM DISORDERS
ANGELMAN-SYNDROME
DROSOPHILA-MELANOGASTER
COGNITIVE FLEXIBILITY
SYNAPTIC PLASTICITY
UBIQUITIN LIGASE
REGULATES SLEEP
SNP array精确诊断1型缺失型Angelman综合征一例 Accurate detection of a case with Angelman syndrome (type 1) using SNP array
期刊论文
2016, 卷号: 33, 期号: 6, 页码: 824
作者:
史珊珊[1]
;
林少宾[2]
收藏
  |  
浏览/下载:9/0
  |  
提交时间:2019/12/10
Angelman综合征
缺失
单核苷酸多态性微阵列
基因型
表型
Clinical Application of an Innovative Multiplex-Fluorescent-Labeled STRs Assay for Prader-Willi Syndrome and Angelman Syndrome
期刊论文
PLOS ONE, 2016, 卷号: 11, 期号: 2
作者:
Zhang, Kaihui
;
Liu, Shu
;
Feng, Bing
;
Yang, Yali
;
Zhang, Haiyan
收藏
  |  
浏览/下载:3/0
  |  
提交时间:2019/12/16
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
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