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科研机构
山东大学 [186]
内容类型
期刊论文 [184]
会议论文 [2]
发表日期
2019 [6]
2018 [7]
2017 [1]
2016 [41]
2015 [60]
2014 [11]
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专题:山东大学
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Genotype-phenotype correlation study and mutational and hormonal analysis in a Chinese cohort with 21-hydroxylase deficiency
期刊论文
MOLECULAR GENETICS & GENOMIC MEDICINE, 2019, 卷号: 7, 期号: 6
作者:
Xu, Chao
;
Jia, Wenyu
;
Cheng, Xiangdeng
;
Ying, Hui
;
Chen, Jing
收藏
  |  
浏览/下载:29/0
  |  
提交时间:2019/12/11
congenital adrenal hyperplasia (CAH)
CYP21A2
genotype-phenotype
associations
mutation
steroid 21-hydroxylase deficiency (21OHD)
Forkhead box O3 promotes colon cancer proliferation and drug resistance by activating MDR1 expression
期刊论文
MOLECULAR GENETICS & GENOMIC MEDICINE, 2019, 卷号: 7, 期号: 3
作者:
Gao, Zhuanglei
;
Li, Zhaoxia
;
Liu, Yuelin
;
Liu, Zhonghao
收藏
  |  
浏览/下载:12/0
  |  
提交时间:2019/12/11
colon cancer
doxorubicin resistance
FOXO3
MDR1
proliferation
Molecular cytogenetic diagnosis of a case with ring chromosome 18 syndrome
期刊论文
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2019, 卷号: 36, 期号: 10, 页码: 1010-1014
作者:
Lyu Y.
;
Wang X.
;
Zhang K.
;
Gao M.
;
Ma J.
收藏
  |  
浏览/下载:12/0
  |  
提交时间:2019/12/11
Molecular Genetics Analysis of 70 Chinese Families With Muscular Dystrophy Using Multiplex Ligation-Dependent Probe Amplification and Next-Generation Sequencing
期刊论文
FRONTIERS IN PHARMACOLOGY, 2019, 卷号: 10
作者:
Wang, Dong
;
Gao, Min
;
Zhang, Kaihui
;
Jin, Ruifeng
;
Lv, Yuqiang
收藏
  |  
浏览/下载:7/0
  |  
提交时间:2019/12/11
muscular dystrophy
multiplex ligation-dependent probe amplification
next-generation sequencing
dystrophin (DMD)
merosin-deficient
congenital muscular dystrophy type 1A
LAMA2
Identification of key candidate targets and pathways for the targeted treatment of leukemia stem cells of chronic myelogenous leukemia using bioinformatics analysis
期刊论文
MOLECULAR GENETICS & GENOMIC MEDICINE, 2019, 卷号: 7, 期号: 9
作者:
Li, Huayao
;
Liu, Lijuan
;
Zhuang, Jing
;
Liu, Cun
;
Zhou, Chao
收藏
  |  
浏览/下载:10/0
  |  
提交时间:2019/12/11
bioinformatics
chronic myeloid leukemia
differentially expressed
genes
differentially expressed microRNAs
gene chip
leukemia stem
cells
CUL4B negatively regulates Toll-like receptor-triggered proinflammatory responses by repressing Pten transcription
期刊论文
Cellular and Molecular Immunology, 2019
作者:
Song Y.
;
Li P.
;
Qin L.
;
Xu Z.
;
Jiang B.
收藏
  |  
浏览/下载:3/0
  |  
提交时间:2019/12/11
CUL4B
TLR signaling
Transcriptional repression
Significant genetic association of a functional TFPI variant with circulating fibrinogen levels and coronary artery disease
期刊论文
MOLECULAR GENETICS AND GENOMICS, 2018, 卷号: 293, 期号: 1, 页码: 119-128
作者:
Naji, Duraid Hamid
;
Tan, Chengcheng
;
Han, Fabin
;
Zhao, Yuanyuan
;
Wang, Junhan
收藏
  |  
浏览/下载:3/0
  |  
提交时间:2019/12/11
Tissue factor pathway inhibitor (TFPI)
Coagulation factor
Fibrinogen
Coronary artery disease (CAD)
Association
Shared mechanisms among neurodegenerative diseases: from genetic factors to gene networks
期刊论文
JOURNAL OF GENETICS, 2018, 卷号: 97, 期号: 3, 页码: 795-806
作者:
Arneson, Douglas
;
Zhang, Yong
;
Yang, Xia
;
Narayanan, Manikandan
收藏
  |  
浏览/下载:3/0
  |  
提交时间:2019/12/11
Alzheimer's disease
Parkinson's disease
amyotrophic lateral sclerosis
neurodegenerative diseases
shared molecular signatures
genomics
A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing
期刊论文
MOLECULAR GENETICS & GENOMIC MEDICINE, 2018, 卷号: 6, 期号: 5, 页码: 739-748
作者:
Yang, Junli
;
Wang, Qiong
;
Zhuo, Qingcui
;
Tian, Huiling
;
Li, Wen
收藏
  |  
浏览/下载:3/0
  |  
提交时间:2019/12/11
glycosylphosphatidylinositol
GPI
IGD
inherited GPI deficiency
MCAHS2
multiple congenital anomalies hypotonia-seizures syndrome 2
phosphatidylinositol glycan anchor biosynthesis class A
PIGA
PIGA
deficiency
splicing defect
WES
whole-exome sequencing
A novel method to accurately calculate statistical significance of local similarity analysis for high-throughput time series
期刊论文
STATISTICAL APPLICATIONS IN GENETICS AND MOLECULAR BIOLOGY, 2018, 卷号: 17, 期号: 6
作者:
Zhang, Fang
;
Shan, Ang
;
Luan, Yihui
收藏
  |  
浏览/下载:13/0
  |  
提交时间:2019/12/11
local similarity analysis
moving block bootstrap
statistical
significance
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