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科研机构
北京大学 [4]
中国医学科学院 北京... [4]
内容类型
期刊论文 [8]
发表日期
2019 [1]
2018 [1]
2017 [3]
2016 [2]
2015 [1]
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Somatic LINE-1 retrotransposition in cortical neurons and non-brain tissues of Rett patients and healthy individuals
期刊论文
2019, 卷号: 15, 期号: 4
作者:
Zhao, Boxun
;
Wu, Qixi
;
Ye, Adam Yongxin
;
Guo, Jing
;
Zheng, Xianing
收藏
  |  
浏览/下载:2/0
  |  
提交时间:2020/01/03
AutismKB 2.0: a knowledgebase for the genetic evidence of autism spectrum disorder
期刊论文
2018
作者:
Yang, Changhong
;
Li, Jiarui
;
Wu, Qixi
;
Yang, Xiaoxu
;
Huang, August Yue
收藏
  |  
浏览/下载:4/0
  |  
提交时间:2020/01/03
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
Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations
期刊论文
2017, 卷号: 38, 期号: 8, 页码: 1002-1013
作者:
Dou, Yanmei
;
Yang, Xiaoxu
;
Li, Ziyi
;
Wang, Sheng
;
Zhang, Zheng
收藏
  |  
浏览/下载:4/0
  |  
提交时间:2020/01/04
autism spectrum disorder
autistic traits
parental mosaicism
single-nucleotide mosaicism
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
Identification of EFHD1 as a novel Ca2+ sensor for mitoflash activation
期刊论文
2016, 卷号: 59, 期号: 5, 页码: 262-270
作者:
Hou, Tingting
;
Jian, Chongshu
;
Xu, Jiejia
;
Huang, August Yue
;
Xi, Jianzhong
收藏
  |  
浏览/下载:3/0
  |  
提交时间:2020/01/04
Mitochondria
Mitochondrial flash (mitoflash)
Ca2+-Binding proteins
Mitochondrial Ca2+ signaling
EFHD1
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
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