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科研机构
厦门大学 [3]
成都生物研究所 [3]
北京大学 [2]
深圳先进技术研究院 [2]
中国科学院大学 [2]
海洋研究所 [2]
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期刊论文 [16]
学位论文 [2]
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2018 [2]
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浏览/检索结果:
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Whole-Exome Sequencing Identified a Novel Compound Heterozygous Genotype in ASL in a Chinese Han Patient with Argininosuccinate Lyase Deficiency
期刊论文
BIOMED RESEARCH INTERNATIONAL, 2019, 页码: 7
作者:
Zhao, Mei
;
Hou, Lingling
;
Teng, Huajing
;
Li, Jinchen
;
Wang, Jiesi
收藏
  |  
浏览/下载:59/0
  |  
提交时间:2019/06/12
Targeted Next-Generation Sequencing Reveals a Novel Frameshift Mutation in the MERTK Gene in a Chinese Family with Retinitis Pigmentosa
期刊论文
GENETIC TESTING AND MOLECULAR BIOMARKERS, 2018, 卷号: 22, 期号: 3, 页码: 165-169
作者:
Yang, Mu
;
Li, Shujin
;
Liu, Wenjing
;
Yang, Yeming
;
Zhang, Lin
收藏
  |  
浏览/下载:20/0
  |  
提交时间:2020/12/24
MERTK
next-generation sequencing
genetics
autosomal recessive retinitis pigmentosa
Exogenous N-acyl-homoserine lactones enhance the expression of flagella of Pseudomonas syringae and activate defence responses in plants
期刊论文
MOLECULAR PLANT PATHOLOGY, 2018, 卷号: 19, 期号: 1, 页码: 104-115
作者:
Cheng, Feifei
;
Ma, Anzhou
;
Zhuang, Guoqiang
;
Fray, Rupert G.
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  |  
浏览/下载:23/0
  |  
提交时间:2019/06/21
defence responses
N-acyl-homoserine lactones
Pseudomonas syringae pv. tabaci 11528
quorum sensing
transgenic plants
virulence
Identification and function analysis of an anti-lipopolysaccharide factor from the ridgetail prawn Exopalaemon carinicauda
期刊论文
DEVELOPMENTAL AND COMPARATIVE IMMUNOLOGY, 2017, 卷号: 70, 页码: 128-134
作者:
Lv, Xinjia
;
Li, Shihao
;
Liu, Fei
;
Li, Fuhua
;
Xiang, Jianhai
收藏
  |  
浏览/下载:24/0
  |  
提交时间:2017/07/07
Anti-lipopolysaccharide Factor
Rna Interference
Bacterial Modulation
Antibacterial
Antiviral
A novel pathogenic splice acceptor site germline mutation in intron 14 of the APC gene in a Chinese family with familial adenomatous polyposis.
期刊论文
ONCOTARGET, 2017
作者:
Wang, Dan
;
Liang, Shengyun
;
Zhang, Xipeng
;
Zhang, Zhao
;
Zhao, Guoru
收藏
  |  
浏览/下载:34/0
  |  
提交时间:2018/02/02
A novel pathogenic single nucleotide germline deletion in APC gene in a four generation Chinese family with familial adenomatous polyposis
期刊论文
Scientific Reports, 2017
作者:
Zhao Zhang
;
Shengyun Liang
;
Dan Wang
;
Shengran Liang
;
Yuwei Li
收藏
  |  
浏览/下载:39/0
  |  
提交时间:2018/02/02
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
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
A novel splice donor site mutation in epha2 caused congenital cataract in a chinese family
期刊论文
Indian journal of ophthalmology, 2016, 卷号: 64, 期号: 5, 页码: 364-368
作者:
Bu, Juan
;
He, Sijie
;
Wang, Lejin
;
Li, Jiankang
;
Liu, Jing
收藏
  |  
浏览/下载:46/0
  |  
提交时间:2019/05/09
Autosomal dominant congenital cataract
Epha2
Splice donor site mutation
Whole exome sequencing
Whole-exome Sequencing Analysis Identifies Mutations in the EYS Gene in Retinitis Pigmentosa in the Indian Population
期刊论文
SCIENTIFIC REPORTS, 2016, 卷号: 6, 页码: 19432(1-10)
作者:
Zhang, DD
;
Zhu, XJ (reprint author), Hosp Univ Elect Sci & Technol China, Sichuan Prov Lab Human Dis Gene Study, Inst Lab Med, Chengdu, Peoples R China.
;
Yang, ZL
;
Zhu, XJ
;
Lu, F
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  |  
浏览/下载:21/0
  |  
提交时间:2017/11/09
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