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科研机构
山东大学 [129]
内容类型
期刊论文 [126]
会议论文 [3]
发表日期
2019 [17]
2018 [14]
2017 [9]
2016 [20]
2015 [10]
2014 [4]
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共129条,第1-10条
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Disease-association of different killer cell immunoglobulin-like receptors (KIR) and HLA-C gene combinations in reactive arthritis
期刊论文
MODERN RHEUMATOLOGY, 2019, 卷号: 29, 期号: 3, 页码: 531-537
作者:
Sun, Hong Sheng
;
Liu, Dong Xia
;
Bai, Yan Yan
;
Hu, Nai Wen
收藏
  |  
浏览/下载:4/0
  |  
提交时间:2019/12/11
Reactive arthritis
KIR
HLA-C
autoimmunity
Paroxysmal spasticity of lower extremities as the initial symptom in two siblings with maple syrup urine disease
期刊论文
MOLECULAR MEDICINE REPORTS, 2019, 卷号: 19, 期号: 6, 页码: 4872-4880
作者:
Liu, Yi-Dan
;
Chu, Xu
;
Liu, Rui-Hua
;
Sun, Ying
;
Kong, Qing-Xia
收藏
  |  
浏览/下载:11/0
  |  
提交时间:2019/12/11
maple syrup urine disease
branched chain keto acid dehydrogenase E1
subunit beta gene
mutation
newborn
encephalopathy
Dysbiosis of the gut microbiome is associated with CKD5 and correlated with clinical indices of the disease: a case-controlled study
期刊论文
JOURNAL OF TRANSLATIONAL MEDICINE, 2019, 卷号: 17
作者:
Li, Yang
;
Su, Xinhuan
;
Zhang, Lei
;
Liu, Yanwei
;
Shi, Min
收藏
  |  
浏览/下载:16/0
  |  
提交时间:2019/12/11
Gut microbiome
Chronic kidney disease
16S rRNA gene sequencing
Indoxyl sulfate
p-Cresyl sulfate
Genetic spectrum of renal disease for 1001 Chinese children based on a multicenter registration system
期刊论文
Clinical Genetics, 2019
作者:
Rao J.
;
Liu X.
;
Mao J.
;
Tang X.
;
Shen Q.
收藏
  |  
浏览/下载:8/0
  |  
提交时间:2019/12/11
chronic kidney disease (CKD)
congenital anomalies of the kidney and urinary tract (CAKUT)
genetics
nephronophthisis (NPHP)
polycystic kidney disease PKD
renal disease
singleton-WES
steroid-resistant nephrotic syndrome (SRNS)
targeted gene sequence (TGS)
trio approach for WES (trio-WES)
whole-exome sequence (WES)
Three novel mutations of the ATP2A2 gene in Chinese patients with Darier disease
期刊论文
AUSTRALASIAN JOURNAL OF DERMATOLOGY, 2019, 卷号: 60, 期号: 2, 页码: E171-E172
作者:
Zhao, Qing
;
Fu, Fanghui
;
Fu, Xi'an
;
Wang, Zhenzhen
;
Liu, Hong
收藏
  |  
浏览/下载:13/0
  |  
提交时间:2019/12/11
ATP-binding cassette sub-family a member1 gene mutation improves lipid metabolic abnormalities in diabetes mellitus
期刊论文
LIPIDS IN HEALTH AND DISEASE, 2019, 卷号: 18, 期号: 1
作者:
Yan, Huili
;
Cheng, Lei
;
Jia, Ruoshuang
;
Yao, Huiqian
;
Wu, Hongxia
收藏
  |  
浏览/下载:6/0
  |  
提交时间:2019/12/11
Diabetes mellitus
ATP-binding cassette sub-family a member1
Triglyceride
Hypertriglyceridemia
Characteristics and advantages of adeno-associated virus vector-mediated gene therapy for neurodegenerative diseases
期刊论文
中国神经再生研究(英文版), 2019, 卷号: 14, 期号: 6, 页码: 931-938
作者:
Qu, Yuan
;
Liu, Yi
;
Noor, Ahmed Fayyaz
;
Tran, Johnathan
;
Li, Rui
收藏
  |  
浏览/下载:3/0
  |  
提交时间:2019/12/11
nerve regeneration
central nervous system
gene therapy
neurodegenerative disease
viral vector
adeno-associated virus
Alzheimer\'s disease
Parkinson\'s disease
Huntington\'s disease
amyotrophic lateral sclerosis
spinal muscular atrophy
neural regeneration
Cervical Spinal Involvement in a Chinese Pedigree With Pontine Autosomal Dominant Microangiopathy and Leukoencephalopathy Caused by a 3 ' Untranslated Region Mutation of COL4A1 Gene
期刊论文
STROKE, 2019, 卷号: 50, 期号: 9, 页码: 2307-2313
作者:
Zhao, Yu-Ying
;
Duan, Ruo-Nan
;
Ji, Lin
;
Liu, Qi-Ji
;
Yan, Chuan-Zhu
收藏
  |  
浏览/下载:17/0
  |  
提交时间:2019/12/11
brain
cerebral small vessel disease
collagen
leukoencephalopathies
magnetic resonance imaging
mutation
pedigree
An integration-free iPSC line (SDQLCHi012-A) derived from a patient with inflammatory bowel disease- 28 carrying compound heterozygote mutations in IL10RA gene
期刊论文
Stem Cell Research, 2019, 卷号: 41
作者:
Ma Y.
;
Zhang H.
;
Zhang S.
;
Dong R.
;
Yang X.
收藏
  |  
浏览/下载:5/0
  |  
提交时间:2019/12/11
A machine learning method for identifying critical interactions between gene pairs in Alzheimer’s disease prediction
期刊论文
Frontiers in Neurology, 2019, 卷号: 10, 期号: OCT
作者:
Chen H.
;
He Y.
;
Ji J.
;
Shi Y.
收藏
  |  
浏览/下载:16/0
  |  
提交时间:2019/12/11
Alzheimer’s disease
Differential networks
Gene expression
Machine learning
Neurodegenerative disease
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