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科研机构
北京大学 [4]
上海神经科学研究所 [4]
武汉病毒研究所 [1]
河北省人民医院 [1]
上海电子信息职业技术... [1]
昆明动物研究所 [1]
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期刊论文 [12]
发表日期
2017 [2]
2016 [3]
2014 [2]
2012 [3]
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Neuroscien... [2]
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Novel FOXG1 mutations in Chinese patients with Rett syndrome or Rett-like mental retardation
期刊论文
BMC MEDICAL GENETICS, 2017
Zhang, Qingping
;
Wang, Jiaping
;
Li, Jiarui
;
Bao, Xinhua
;
Zhao, Ying
;
Zhang, Xiaoying
;
Wei, Liping
;
Wu, Xiru
收藏
  |  
浏览/下载:7/0
  |  
提交时间:2017/12/03
FOXG1
RTT
RTT-like MR
Epilepsy
Hypoplasia of corpus callosum
VARIANT
MOSAICISM
DISORDER
CRITERIA
EPILEPSY
MECP2
Lrch1 interferes with dock8-cdc42-induced t cell migration and ameliorates experimental autoimmune encephalomyelitis
期刊论文
Journal of experimental medicine, 2017, 卷号: 214, 期号: 1, 页码: 209-226
作者:
Xu, Xiaoyan
;
Han, Lei
;
Zhao, Guixian
;
Xue, Shengjie
;
Gao, Yunzhen
收藏
  |  
浏览/下载:55/0
  |  
提交时间:2019/05/08
Tcf4 Controls Neuronal Migration of the Cerebral Cortex through Regulation of Bmp7
期刊论文
FRONTIERS IN MOLECULAR NEUROSCIENCE, 2016
Chen, Tianda
;
Wu, Qinwei
;
Zhang, Yang
;
Lu, Tianlan
;
Yue, Weihua
;
Zhang, Dai
收藏
  |  
浏览/下载:5/0
  |  
提交时间:2017/12/03
schizophrenia
brain development
neuronal migration
TCF4
Bmp7
PITT-HOPKINS-SYNDROME
TRANSCRIPTION FACTOR
DIFFERENTIATION
SCHIZOPHRENIA
PROGENITORS
PROTEINS
GENES
CELLS
E2-2
TALEN-based generation of a cynomolgus monkey disease model for human microcephaly
期刊论文
CELL RESEARCH, 2016
Ke, Qiong
;
Li, Weiqiang
;
Lai, Xingqiang
;
Chen, Hong
;
Huang, Lihua
;
Kang, Zhuang
;
Li, Kai
;
Ren, Jie
;
Lin, Xiaofeng
;
Zheng, Haiqing
;
Huang, Weijun
;
Ma, Yunhan
;
Xu, Dongdong
;
Chen, Zheng
;
Song, Xinming
;
Lin, Xinyi
;
Zhuang, Min
;
Wang, Tao
;
Zhuang, Fengfeng
;
Xi, Jianzhong
;
Mao, Frank Fuxiang
;
Xia, Huimin
;
Lahn, Bruce T.
;
Zhou, Qi
;
Yang, Shihua
;
Xiang, Andy Peng
收藏
  |  
浏览/下载:26/0
  |  
提交时间:2017/12/04
MCPH1
microcephaly
TALEN
gene mutant
cynomolgus monkey
PREMATURE CHROMOSOME CONDENSATION
HUMAN BRAIN SIZE
MOUSE MODEL
MCPH1 GENE
MUTATION
PRIMATE
RHESUS
CELLS
TELOMERASE
CHECKPOINT
Structural basis of dual Ca 2+ /pH regulation of the endolysosomal TRPML1 channel
期刊论文
NATURE STRUCTURAL & MOLECULAR BIOLOGY, 2016, 卷号: **, 期号: **, 页码: published online
作者:
Li MH
;
Zhang WK
;
Li H
;
Wang S
;
Michailidis IE
收藏
  |  
浏览/下载:21/0
  |  
提交时间:2017/02/10
Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients
期刊论文
bmc medical genetics, 2014
Zhao, Ying
;
Zhang, Xiaoying
;
Bao, Xinhua
;
Zhang, Qingping
;
Zhang, Jingjing
;
Cao, Guangna
;
Zhang, Jie
;
Li, Jiarui
;
Wei, Liping
;
Pan, Hong
;
Wu, Xiru
收藏
  |  
浏览/下载:9/0
  |  
提交时间:2015/11/10
CDKL5 mutations
Early-onset epileptic encephalopathy
X chromosome inactivation
ONSET INTRACTABLE EPILEPSY
X-CHROMOSOME INACTIVATION
CDKL5 MUTATIONS
RETT-SYNDROME
INFANTILE SPASMS
MENTAL-RETARDATION
SEVERE ENCEPHALOPATHY
FEMALE-PATIENTS
BOYS
SEIZURES
A novel 5p15.33-14.1 deletion and 4q34.24-35.2 duplication in a patient with mental retardation, dysmorphic features and severe speech delay
期刊论文
Journal of Genetics, 2014, 卷号: Vol.93 No.1, 页码: 159-162
作者:
QINYING CAO
;
YUANYUAN PENG
;
JUN GE
;
YANHUA ZHANG
;
JUNZHEN ZHU
收藏
  |  
浏览/下载:4/0
  |  
提交时间:2019/03/26
mental
retardation
speech
delay
microcephaly
copy
number
variation
microdeletion
microduplication
High Proportion of 22q13 Deletions and SHANK3 Mutations in Chinese Patients with Intellectual Disability
期刊论文
PLOS ONE, 2012, 卷号: 7, 期号: 4, 页码: -e34739
Gong, XH
;
Jiang, YW
;
Zhang, X
;
An, Y
;
Zhang, J
;
Wu, Y
;
Wang, JM
;
Sun, YF
;
Liu, YY
;
Gao, XW
;
Shen, YP
;
Wu, XR
;
Qiu, ZL
;
Jin, L
;
Wu, BL
;
Wang, HY
收藏
  |  
浏览/下载:19/0
  |  
提交时间:2013/06/04
SCAFFOLDING PROTEIN SHANK3
COPY NUMBER VARIATION
MENTAL-RETARDATION
CONGENITAL-ANOMALIES
LEARNING-DISABILITY
GENE-EXPRESSION
ARRAY CGH
DELAY
A case report of Chinese brothers with inherited MECP2-containing duplication: autism and intellectual disability, but not seizures or respiratory infections
期刊论文
BMC MEDICAL GENETICS, 2012, 卷号: 13, 期号: Aug, 页码: -75
Xu, X
;
Xu, Q
;
Zhang, Y
;
Zhang, XD
;
Cheng, TL
;
Wu, BB
;
Ding, YH
;
Lu, P
;
Zheng, JJ
;
Zhang, M
;
Qiu, ZL
;
Yu, X
收藏
  |  
浏览/下载:25/0
  |  
提交时间:2013/06/04
SEVERE MENTAL-RETARDATION
CREATINE TRANSPORTER DEFICIENCY
CPG-BINDING PROTEIN-2
GENE COPY NUMBER
RETT-SYNDROME
MECP2 GENE
NEUROLOGICAL SYMPTOMS
RECURRENT INFECTIONS
XQ28
DISORDER
Data-Based Decisions Guidelines for Teachers of Students with Severe Intellectual and Developmental Disabilities
期刊论文
EDUCATION AND TRAINING IN AUTISM AND DEVELOPMENTAL DISABILITIES, 2012, 卷号: Vol.47 No.4, 页码: 407-413
作者:
收藏
  |  
浏览/下载:2/0
  |  
提交时间:2020/01/04
Guidelines
Developmental
Disabilities
Mental
Retardation
Severe
Mental
Retardation
Program
Implementation
Professional
Development
Decision
Making
Skills
Inferences
Evidence
Accessibility
Teaching
Skills
Educational
Practices
Electronic
Learning
Data
Analysis
Information
Utilization
Instructional
Innovation
Teaching
Methods
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