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北京大学 [51]
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期刊论文 [51]
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2017 [8]
2016 [3]
2015 [4]
2014 [6]
2013 [6]
2012 [1]
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内容类型:期刊论文
专题:北京大学
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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
Loss of FMRP Impaired Hippocampal Long-Term Plasticity and Spatial Learning in Rats
期刊论文
FRONTIERS IN MOLECULAR NEUROSCIENCE, 2017
Tian, Yonglu
;
Yang, Chaojuan
;
Shang, Shujiang
;
Cai, Yijun
;
Deng, Xiaofei
;
Zhang, Jian
;
Shao, Feng
;
Zhu, Desheng
;
Liu, Yunbo
;
Chen, Guiquan
;
Liang, Jing
;
Sun, Qiang
;
Qiu, Zilong
;
Zhang, Chen
收藏
  |  
浏览/下载:7/0
  |  
提交时间:2017/12/03
FXS
hippocampus
long-term plasticity
spatial learning
intellectual disability
FRAGILE-X-SYNDROME
SPONTANEOUSLY HYPERTENSIVE-RAT
MENTAL-RETARDATION PROTEIN
KNOCKOUT MICE
MOUSE MODEL
SYNAPTIC PLASTICITY
SOCIAL-BEHAVIOR
POTENTIATION
GENE
EXPRESSION
SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures
期刊论文
BMC MEDICAL GENETICS, 2017
Wang, Jiaping
;
Gao, Hua
;
Bao, Xinhua
;
Zhang, Qingping
;
Li, Jiarui
;
Wei, Liping
;
Wu, Xiru
;
Chen, Yan
;
Yu, Shujie
收藏
  |  
浏览/下载:5/0
  |  
提交时间:2017/12/03
SCN8A
Epileptic encephalopathy
Family cases
DE-NOVO MUTATIONS
SODIUM-CHANNEL
PHENOTYPIC SPECTRUM
CLINICAL SPECTRUM
SCN2A MUTATIONS
RECURRENT
NA(V)1.6
CHILDREN
Structural and biochemical characterization of DAXX-ATRX interaction
期刊论文
PROTEIN & CELL, 2017
Li, Zhuang
;
Zhao, Dan
;
Xiang, Bin
;
Li, Haitao
收藏
  |  
浏览/下载:4/0
  |  
提交时间:2017/12/03
MENTAL-RETARDATION
HISTONE CHAPERONE
X SYNDROME
COMPLEX
DOMAIN
RECOGNITION
PROTEIN
RASSF1C
LINKS
H3.3
Familial cases and male cases with MECP2 mutations
期刊论文
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, 2017
Zhang, Qingping
;
Zhao, Ying
;
Bao, Xinhua
;
Luo, Jinjun
;
Zhang, Xiaoying
;
Li, Jiarui
;
Wei, Liping
;
Wu, Xiru
收藏
  |  
浏览/下载:10/0
  |  
提交时间:2017/12/03
clinical manifestations
pathogenic gene spectrum
phenotypic heterogeneity
Rett syndrome
X-linked mental retardation
LINKED MENTAL-RETARDATION
RETT-SYNDROME
HOT-SPOT
PHENOTYPE
GENE
ENCEPHALOPATHY
INACTIVATION
METHYLATION
DYSFUNCTION
SPASTICITY
The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population
期刊论文
CLINICAL GENETICS, 2017
Liu, A.
;
Xu, X.
;
Yang, X.
;
Jiang, Y.
;
Yang, Z.
;
Liu, X.
;
Wu, Y.
;
Wu, X.
;
Wei, L.
;
Zhang, Y.
收藏
  |  
浏览/下载:8/0
  |  
提交时间:2017/12/04
clinical manifestation
Dravet syndrome
epilepsy
females
fever
PCDH19
PROTOCADHERIN 19 MUTATIONS
MENTAL-RETARDATION
LIMITED EPILEPSY
ONSET EPILEPSY
DE-NOVO
ENCEPHALOPATHY
INHERITANCE
FEVER
Migration of Se-75(IV) in crushed Beishan granite: Effects of the iron content
期刊论文
JOURNAL OF HAZARDOUS MATERIALS, 2017
He, Jiangang
;
Ma, Bin
;
Kang, Mingliang
;
Wang, Chunli
;
Nie, Zhe
;
Liu, Chunli
收藏
  |  
浏览/下载:6/0
  |  
提交时间:2017/12/03
Nuclear waste disposal
Diffusion
Selenite
Beishan granite
Fe(III)-oxyhydroxides
SELENIUM OXYANIONS
CAPILLARY METHOD
DEPENDENT DIFFUSION
COMPACTED BENTONITE
SORPTION
ADSORPTION
REDUCTION
PH
MECHANISMS
INTERFACE
Loading history dependence of retardation time of calcium-silicate-hydrate
期刊论文
CONSTRUCTION AND BUILDING MATERIALS, 2017
Chen, Jian-Kang
;
Qian, Chen
收藏
  |  
浏览/下载:6/0
  |  
提交时间:2017/12/03
Calcium-silicate-hydrate (C-S-H)
Creep
Nanoindentation
Retardation time
Loading rate
Power law
C-S-H
CEMENT-BASED MATERIALS
CREEP-PROPERTIES
NANOINDENTATION
CONCRETE
ELASTICITY
POROSITY
SURFACE
PASTE
GEL
Carbon and nitrogen additions induce distinct priming effects along an organic-matter decay continuum
期刊论文
SCIENTIFIC REPORTS, 2016
Qiao, Na
;
Xu, Xingliang
;
Hu, Yuehua
;
Blagodatskaya, Evgenia
;
Liu, Yongwen
;
Schaefer, Douglas
;
Kuzyakov, Yakov
收藏
  |  
浏览/下载:4/0
  |  
提交时间:2017/12/03
ELEVATED CO2
SOIL CARBON
LITTER DECOMPOSITION
N AVAILABILITY
USE EFFICIENCY
STOICHIOMETRY
FOREST
LIMITATION
NUTRIENT
METAANALYSIS
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
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