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科研机构
山东大学 [16]
内容类型
期刊论文 [16]
发表日期
2019 [16]
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共16条,第1-10条
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发表日期:2019
专题:山东大学
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Mutational spectrum and associations with clinical features in patients with acute myeloid leukaemia based on next-generation sequencing
期刊论文
MOLECULAR MEDICINE REPORTS, 2019, 卷号: 19, 期号: 5, 页码: 4147-4158
作者:
Li, Ying
;
Lv, Xiao
;
Ge, Xueling
;
Yuan, Dai
;
Ding, Mei
收藏
  |  
浏览/下载:38/0
  |  
提交时间:2019/12/11
acute myeloid leukaemia
gene mutation
clinical feature
prognosis
overall survival
DNA methytransferase 3
CCAAT enhancer binding protein
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
A Novel Mutation in the Glucocorticoid Receptor Gene Causing Resistant Hypertension: A Case Report
期刊论文
AMERICAN JOURNAL OF HYPERTENSION, 2019, 卷号: 32, 期号: 11, 页码: 1126-1128
作者:
Lin, Lin
;
Wu, Xia
;
Hou, Yamin
;
Zheng, Fei
;
Xu, Rui
收藏
  |  
浏览/下载:9/0
  |  
提交时间:2019/12/11
A, p.R322H; c.334 G > C, p.G112R) identified in a Chinese patient with leukodystrophy involved in brain and spinal cord">A novel compound heterozygous mutation in AARS2 gene (c.965 G > A, p.R322H; c.334 G > C, p.G112R) identified in a Chinese patient with leukodystrophy involved in brain and spinal cord
期刊论文
JOURNAL OF HUMAN GENETICS, 2019, 卷号: 64, 期号: 10, 页码: 979-983
作者:
Song, Chengyuan
;
Peng, Linliu
;
Wang, Shengjun
;
Liu, Yiming
收藏
  |  
浏览/下载:15/0
  |  
提交时间:2019/12/11
Identification of a novel mutation of FGFR3 gene in a large Chinese pedigree with hypochondroplasia by next-generation sequencing A case report and brief literature review
期刊论文
MEDICINE, 2019, 卷号: 98, 期号: 4
作者:
Yao, Guixiang
;
Wang, Guangxin
;
Wang, Dawei
;
Su, Guohai
收藏
  |  
浏览/下载:9/0
  |  
提交时间:2019/12/11
T
FGFR3 gene
hypochondroplasia
next-generation sequencing">c.1052C > T
FGFR3 gene
hypochondroplasia
next-generation sequencing
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
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
Establishment of a human iPSC line (SDQLCHi010-A) from a patient with optic nerve malformation carrying a heterozygous mutation in PAX6 gene
期刊论文
Stem Cell Research, 2019, 卷号: 41
作者:
Zhang H.
;
Ma Y.
;
Yu S.
;
Yang X.
;
Li Y.
收藏
  |  
浏览/下载:5/0
  |  
提交时间:2019/12/11
Research progress of single nucleotide polymorphism and development of high myopia [单核苷酸多态性与高度近视发生发展的研究进展]
期刊论文
International Eye Science, 2019, 卷号: 19, 期号: 9, 页码: 1495-1498
作者:
Wu S.-S.
;
Guo D.-D.
;
Liu D.-Z.
;
Yin L.-L.
;
Jiang W.-J.
收藏
  |  
浏览/下载:9/0
  |  
提交时间:2019/12/11
Allele
Gene mutation
Single nucleotide polymorphisms
Susceptibility
Mutation analysis of the KRT17 gene in steatocystoma multiplex and a brief literature review
期刊论文
Clinical and Experimental Dermatology, 2019
作者:
Zhang B.
;
Sun L.
;
Fu X.
;
Yu G.
;
Liu H.
收藏
  |  
浏览/下载:5/0
  |  
提交时间:2019/12/11
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