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科研机构
北京大学 [11]
内容类型
期刊论文 [10]
其他 [1]
发表日期
2017 [3]
2016 [1]
2015 [2]
2013 [1]
2012 [2]
2011 [1]
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专题:北京大学
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Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations
期刊论文
HUMAN MUTATION, 2017
Dou, Yanmei
;
Yang, Xiaoxu
;
Li, Ziyi
;
Wang, Sheng
;
Zhang, Zheng
;
Ye, Adam Yongxin
;
Yan, Linlin
;
Yang, Changhong
;
Wu, Qixi
;
Li, Jiarui
;
Zhao, Boxun
;
Huang, August Yue
;
Wei, Liping
收藏
  |  
浏览/下载:121/0
  |  
提交时间:2017/12/03
autism spectrum disorder
autistic traits
parental mosaicism
single-nucleotide mosaicism
DE-NOVO MUTATIONS
INTERACTION NETWORKS
SOMATIC MOSAICISM
DRAVET SYNDROME
HUMAN-DISEASE
GENETIC RISK
HUMAN BRAIN
EVOLUTION
PATTERNS
GENOME
MosaicHunter: accurate detection of postzygotic single-nucleotide mosaicism through next-generation sequencing of unpaired, trio, and paired samples
期刊论文
NUCLEIC ACIDS RESEARCH, 2017
Huang, August Yue
;
Zhang, Zheng
;
Ye, Adam Yongxin
;
Dou, Yanmei
;
Yan, Linlin
;
Yang, Xiaoxu
;
Zhang, Yuehua
;
Wei, Liping
收藏
  |  
浏览/下载:6/0
  |  
提交时间:2017/12/03
MONOZYGOTIC TWINS DISCORDANT
SOMATIC POINT MUTATIONS
HUMAN CANCER GENOMES
DE-NOVO MUTATIONS
WHOLE-GENOME
COPY NUMBER
CLONAL HEMATOPOIESIS
HUMAN TISSUES
VARIANT
IDENTIFICATION
Development and evaluation of a speech-generating AAC mobile app for minimally verbal children with autism spectrum disorder in Mainland China
期刊论文
MOLECULAR AUTISM, 2017
An, Sainan
;
Feng, Xiaoping
;
Dai, Yue
;
Bo, Hongli
;
Wang, Xiuqing
;
Li, Mu
;
Woo, John Zhuohao
;
Liang, Xingmei
;
Guo, Cheng
;
Liu, Charles Xingchao
;
Wei, Liping
收藏
  |  
浏览/下载:6/0
  |  
提交时间:2017/12/03
Augmentative and alternative communication
App
Development
Training effectiveness
Mainland China
EXCHANGE COMMUNICATION-SYSTEM
REQUESTING SKILLS
DEVICE
PECS
INTERVENTIONS
METAANALYSIS
ACQUISITION
ASD
INDIVIDUALS
TRIAL
Identification of EFHD1 as a novel Ca2+ sensor for mitoflash activation
期刊论文
CELL CALCIUM, 2016
Hou, Tingting
;
Jian, Chongshu
;
Xu, Jiejia
;
Huang, August Yue
;
Xi, Jianzhong
;
Hu, Keping
;
Wei, Liping
;
Cheng, Heping
;
Wang, Xianhua
收藏
  |  
浏览/下载:12/0
  |  
提交时间:2017/12/03
Mitochondria
Mitochondrial flash (mitoflash)
Ca2+-Binding proteins
Mitochondrial Ca2+ signaling
EFHD1
CA-2&
MITOCHONDRIAL CALCIUM UNIPORTER
WOLF-HIRSCHHORN-SYNDROME
SUPEROXIDE FLASHES
PERMEABILITY TRANSITION
INDIVIDUAL MITOCHONDRIA
SKELETAL-MUSCLE
CANDIDATE GENE
EF-HAND
PROTEIN
-INDUCED MEMBRANE TRANSITION
Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome
期刊论文
HUMAN MUTATION, 2015
Xu, Xiaojing
;
Yang, Xiaoxu
;
Wu, Qixi
;
Liu, Aijie
;
Yang, Xiaoling
;
Ye, Adam Yongxin
;
Huang, August Yue
;
Li, Jiarui
;
Wang, Meng
;
Yu, Zhe
;
Wang, Sheng
;
Zhang, Zhichao
;
Wu, Xiru
;
Wei, Liping
;
Zhang, Yuehua
收藏
  |  
浏览/下载:5/0
  |  
提交时间:2017/12/03
de novo
mosaic
Dravet syndrome
SCN1A
next-generation sequencing
somatic mutation
SEVERE MYOCLONIC EPILEPSY
AUTISM SPECTRUM DISORDERS
HUMAN GENETIC-DISEASE
SOMATIC MOSAICISM
MISSENSE MUTATION
FEBRILE SEIZURES
POINT MUTATIONS
DENOVO MUTATION
MARFAN-SYNDROME
ALPORT-SYNDROME
Regulatory Roles of NDUFAB1 in Mitoflashes and Mitochondrial Function
其他
2015-01-01
Tingting Hou
;
Chongshu Jian
;
Rufeng Zhang
;
Jiejia Xu
;
Yanru Wang
;
Yue Huang
;
Jianzhong Xi
;
Liping Wei
;
Heping Cheng
;
Xianhua Wang
收藏
  |  
浏览/下载:5/0
  |  
提交时间:2017/12/03
mitochondrial
superoxide
accessory
FADH
respiration
burst
library
transgenic
regulator
depletion
mitochondrial
superoxide
accessory
FADH
respiration
burst
library
transgenic
regulator
depletion
Recent Adaptive Events in Human Brain Revealed by Meta-Analysis of Positively Selected Genes
期刊论文
plos one, 2013
Huang, Yue
;
Xie, Chen
;
Ye, Adam Y.
;
Li, Chuan-Yun
;
Gao, Ge
;
Wei, Liping
收藏
  |  
浏览/下载:2/0
  |  
提交时间:2015/11/13
NATURAL-SELECTION
HUMAN GENOME
HOMO-SAPIENS
EVOLUTION
SIGNATURES
GENETICS
BIOLOGY
FOXP2
MOUSE
SCANS
AutismKB: an evidence-based knowledgebase of autism genetics
期刊论文
核酸研究, 2012
Xu, Li-Ming
;
Li, Jia-Rui
;
Huang, Yue
;
Zhao, Min
;
Tang, Xing
;
Wei, Liping
收藏
  |  
浏览/下载:5/0
  |  
提交时间:2015/11/14
DATABASE UPDATE 2011
HUMAN GENOME
SPECTRUM DISORDER
RNA-SEQ
BIOINFORMATICS RESOURCES
SYSTEMATIC METAANALYSES
DISEASE-ONTOLOGY
ASSOCIATION
TRANSCRIPTOMES
DIFFERENTIATION
Thrombin Receptor Regulates Hematopoiesis and Endothelial-to-Hematopoietic Transition
期刊论文
developmental cell, 2012
Yue, Rui
;
Li, Haisen
;
Liu, Huan
;
Li, Yuanyuan
;
Wei, Bin
;
Gao, Ge
;
Jin, Yi
;
Liu, Tingxi
;
Wei, Liping
;
Du, Jiulin
;
Pei, Gang
收藏
  |  
浏览/下载:3/0
  |  
提交时间:2015/11/12
PROTEASE-ACTIVATED RECEPTORS
EPITHELIAL-CELL PLASTICITY
STEM-CELLS
DEFINITIVE HEMATOPOIESIS
EMBRYONIC-DEVELOPMENT
AORTIC ENDOTHELIUM
COUPLED RECEPTORS
HAEMOGENIC ENDOTHELIUM
ZEBRAFISH EMBRYO
RHO-GTPASES
Cullin Mediates Degradation of RhoA through Evolutionarily Conserved BTB Adaptors to Control Actin Cytoskeleton Structure and Cell Movement (vol 35, pg 841, 2009)
期刊论文
分子细胞, 2011
Chen, Yuezhou
;
Yang, Zhenxiao
;
Meng, Min
;
Zhao, Yue
;
Dong, Na
;
Yan, Hongming
;
Liu, Liping
;
Ding, Mingxiao
;
Peng, H. Benjamin
;
Shao, Feng
收藏
  |  
浏览/下载:7/0
  |  
提交时间:2015/11/10
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