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科研机构
北京大学 [162]
内容类型
期刊论文 [154]
其他 [8]
发表日期
2017 [20]
2016 [21]
2015 [23]
2014 [27]
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2012 [12]
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共162条,第1-10条
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专题:北京大学
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PML-RARA mutations confer varying arsenic trioxide resistance
期刊论文
PROTEIN & CELL, 2017
Bai, Dong-Mei
;
Zheng, Xiao-Feng
收藏
  |  
浏览/下载:4/0
  |  
提交时间:2017/12/03
ACUTE PROMYELOCYTIC LEUKEMIA
RETINOIC ACID
ALPHA
Identification of autism-related MECP2 mutations by whole-exome sequencing and functional validation
期刊论文
MOLECULAR AUTISM, 2017
Wen, Zhu
;
Cheng, Tian-Lin
;
Li, Gai-Zhi
;
Sun, Shi-Bang
;
Yu, Shun-Ying
;
Zhang, Yi
;
Du, Ya-Song
;
Qiu, Zilong
收藏
  |  
浏览/下载:117/0
  |  
提交时间:2017/12/03
Autism spectrum disorder
Methyl-CpG-binding protein-2 (MeCP2)
Whole-exome sequencing
Neural development
CPG-BINDING PROTEIN-2
RETT-SYNDROME
DENDRITIC GROWTH
GENE
MICE
TRANSCRIPTION
MATURATION
DISORDER
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
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
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
Accurately annotate compound effects of genetic variants using a context-sensitive framework
期刊论文
NUCLEIC ACIDS RESEARCH, 2017
Cheng, Si-Jin
;
Shi, Fang-Yuan
;
Liu, Huan
;
Ding, Yang
;
Jiang, Shuai
;
Liang, Nan
;
Gao, Ge
收藏
  |  
浏览/下载:3/0
  |  
提交时间:2017/12/03
CHARGE-SYNDROME
MUTATION UPDATE
GENOME
PREDICTION
EPISTASIS
HUMANS
The MBD7 complex promotes expression of methylated transgenes without significantly altering their methylation status
期刊论文
ELIFE, 2017
Li, Dongming
;
Palanca, Ana Marie S.
;
Won, So Youn
;
Gao, Lei
;
Feng, Ying
;
Vashisht, Ajay A.
;
Liu, Li
;
Zhao, Yuanyuan
;
Liu, Xigang
;
Wu, Xiuyun
;
Li, Shaofang
;
Le, Brandon
;
Kim, Yun Ju
;
Yang, Guodong
;
Li, Shengben
;
Liu, Jinyuan
;
Wohlschlegel, James A.
;
Guo, Hongwei
;
Mo, Beixin
;
Chen, Xuemei
;
Law, Julie A.
收藏
  |  
浏览/下载:105/0
  |  
提交时间:2017/12/03
ACTIVE DNA DEMETHYLATION
BINDING DOMAIN PROTEINS
RNA-POLYMERASES-IV
ARABIDOPSIS-THALIANA
HISTONE ACETYLTRANSFERASE
SIRNA BIOGENESIS
MUTANTS REVEALS
LINKS DNA
POL IV
PLANTS
Simultaneous Identification of Multiple Causal Mutations in Rice
期刊论文
FRONTIERS IN PLANT SCIENCE, 2017
Yan, Wei
;
Chen, Zhufeng
;
Lu, Jiawei
;
Xu, Chunjue
;
Xie, Gang
;
Li, Yiqi
;
Deng, Xing Wang
;
He, Hang
;
Tang, Xiaoyan
收藏
  |  
浏览/下载:107/0
  |  
提交时间:2017/12/03
SIMM
next-generationsequencingtechnology
single nucleotide polymorphism
SNPindex
allele index
Euclidean distance
sequence correction
SHORT READ ALIGNMENT
MAP-BASED CLONING
ARABIDOPSIS-THALIANA
POLLEN DEVELOPMENT
GENOME
GENE
MUTANT
GENERATION
RESISTANCE
MEIOSIS
Topoisomerase 3 beta is the major topoisomerase for mRNAs and linked to neurodevelopment and mental dysfunction
期刊论文
NUCLEIC ACIDS RESEARCH, 2017
Ahmad, Muzammil
;
Shen, Weiping
;
Li, Wen
;
Xue, Yutong
;
Zou, Sige
;
Xu, Dongyi
;
Wang, Weidong
收藏
  |  
浏览/下载:7/0
  |  
提交时间:2017/12/03
FRAGILE-X-SYNDROME
DNA TOPOISOMERASES
BINDING PROTEINS
III-BETA
SCHIZOPHRENIA
TOP3-BETA
FMRP
PERSPECTIVE
AUTISM
ROLES
Ultrasensitive and high-efficiency screen of de novo low-frequency mutations by o2n-seq
期刊论文
NATURE COMMUNICATIONS, 2017
Wang, Kaile
;
Lai, Shujuan
;
Yang, Xiaoxu
;
Zhu, Tianqi
;
Lu, Xuemei
;
Wu, Chung-I
;
Ruan, Jue
收藏
  |  
浏览/下载:4/0
  |  
提交时间:2017/12/03
SHORT SEQUENCE READS
RARE MUTATIONS
PARALLEL
CANCER
SAMPLES
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