全文获取类型
收费全文 | 258篇 |
免费 | 16篇 |
国内免费 | 18篇 |
专业分类
儿科学 | 9篇 |
妇产科学 | 4篇 |
基础医学 | 50篇 |
口腔科学 | 1篇 |
临床医学 | 28篇 |
内科学 | 47篇 |
皮肤病学 | 2篇 |
神经病学 | 7篇 |
特种医学 | 39篇 |
外科学 | 6篇 |
综合类 | 7篇 |
预防医学 | 15篇 |
眼科学 | 9篇 |
药学 | 24篇 |
肿瘤学 | 44篇 |
出版年
2022年 | 2篇 |
2021年 | 1篇 |
2020年 | 2篇 |
2018年 | 4篇 |
2016年 | 6篇 |
2015年 | 3篇 |
2014年 | 6篇 |
2013年 | 9篇 |
2012年 | 5篇 |
2011年 | 11篇 |
2010年 | 12篇 |
2009年 | 7篇 |
2008年 | 10篇 |
2007年 | 20篇 |
2006年 | 10篇 |
2005年 | 8篇 |
2004年 | 10篇 |
2003年 | 14篇 |
2002年 | 12篇 |
2001年 | 9篇 |
2000年 | 8篇 |
1999年 | 9篇 |
1998年 | 11篇 |
1997年 | 8篇 |
1996年 | 13篇 |
1995年 | 7篇 |
1994年 | 12篇 |
1993年 | 2篇 |
1992年 | 4篇 |
1991年 | 3篇 |
1990年 | 2篇 |
1989年 | 8篇 |
1988年 | 10篇 |
1987年 | 5篇 |
1986年 | 3篇 |
1985年 | 2篇 |
1984年 | 2篇 |
1983年 | 3篇 |
1982年 | 1篇 |
1981年 | 4篇 |
1980年 | 3篇 |
1978年 | 3篇 |
1977年 | 2篇 |
1976年 | 2篇 |
1975年 | 4篇 |
排序方式: 共有292条查询结果,搜索用时 0 毫秒
31.
Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP) 总被引:8,自引:0,他引:8
Rowe PS; Oudet CL; Francis F; Sinding C; Pannetier S; Econs MJ; Strom TM; Meitinger T; Garabedian M; David A; Macher MA; Questiaux E; Popowska E; Pronicka E; Read AP; Mokrzycki A; Glorieux FH; Drezner MK; Hanauer A; Lehrach H; Goulding JN; O'Riordan JL 《Human molecular genetics》1997,6(4):539-549
Mutations in the PEX gene at Xp22.1 (phosphate-regulating gene with
homologies to endopeptidases, on the X-chromosome), are responsible for
X-linked hypophosphataemic rickets (HYP). Homology of PEX to the M13 family
of Zn2+ metallopeptidases which include neprilysin (NEP) as prototype, has
raised important questions regarding PEX function at the molecular level.
The aim of this study was to analyse 99 HYP families for PEX gene
mutations, and to correlate predicted changes in the protein structure with
Zn2+ metallopeptidase gene function. Primers flanking 22 characterised
exons were used to amplify DNA by PCR, and SSCP was then used to screen for
mutations. Deletions, insertions, nonsense mutations, stop codons and
splice mutations occurred in 83% of families screened for in all 22 exons,
and 51% of a separate set of families screened in 17 PEX gene exons.
Missense mutations in four regions of the gene were informative regarding
function, with one mutation in the Zn2+-binding site predicted to alter
substrate enzyme interaction and catalysis. Computer analysis of the
remaining mutations predicted changes in secondary structure,
N-glycosylation, protein phosphorylation and catalytic site molecular
structure. The wide range of mutations that align with regions required for
protease activity in NEP suggests that PEX also functions as a protease,
and may act by processing factor(s) involved in bone mineral metabolism.
相似文献
32.
Peter Henneman Femke van der Sman-de Beer Payman Hanifi Moghaddam Petra Huijts Anton FH Stalenhoef John JP Kastelein Cornelia M van Duijn Louis M Havekes Rune R Frants Ko Willems van Dijk Augustinus HM Smelt 《European journal of human genetics : EJHG》2009,17(5):620-628
Type III hyperlipoproteinemia (HLP) is mainly found in homozygous apolipoprotein (APO) E2 (R158C) carriers. Genetic factors contributing to the expression of type III HLP were investigated in 113 hyper- and 52 normolipidemic E2/2 subjects, by testing for polymorphisms in APOC3, APOA5, HL (hepatic lipase) and LPL (lipoprotein lipase) genes. In addition, 188 normolipidemic Dutch control panels (NDCP) and 141 hypertriglyceridemic (HTG) patients were genotyped as well. No associations were found for four HL gene polymorphisms and two LPL gene polymorphisms and type III HLP. The frequency of the rare allele of APOC3 3238 G>C and APOA5 −1131 T>C (in linkage disequilibrium) was significantly higher in type III HLP patients when compared with normolipidemic E2/2 subjects, 15.6 vs 6.9% and 15.1 vs 5.8%, respectively, (P<0.05). Furthermore, the frequencies of the APOA5 c.56 G>C polymorphism and LPL c.27 G>A mutation were higher in type III HLP patients, though not significant. Some 58% of the type III HLP patients carried either the APOA5 −1131 T>C, c.56 G>C and/or LPL c.27 G>A mutation as compared to 27% of the normolipidemic APOE2/2 subjects (odds ratio 3.7, 95% confidence interval=1.8–7.5, P<0.0001). The HTG patients showed similar allele frequencies of the APOA5, APOC3 and LPL polymorphisms, whereas the NDCP showed similar allele frequencies as the normolipidemic APOE2/2. Patients with the APOC3 3238 G>C/APOA5 −1131 T>C polymorphism showed a more severe hyperlipidemia than patients without this polymorphism. Polymorphisms in lipolysis genes associate with the expression and severity of type III HLP in APOE2/2. 相似文献
33.
34.
Role of Resveratrol as Radiosensitizer by Targeting Cancer Stem Cells in Radioresistant Prostate Cancer Cells (PC-3) 下载免费PDF全文
Sanaa A El-BenhawyMohmed I MorsiEnayat I FahmyMoustafa A SoulaFatma Al Zahraa FH KhalilAmal Refaat Arab 《Asian Pacific journal of cancer prevention》2021,22(12):3823-3837
Aim of Work: Here, we examined the role of resveratrol as a radiosensitizer by targeting cancer stem cells in radioresistant prostate cancer cells (PC-3) using stem cell markers CD44, CD49b and CD29, SOX2, OCT4, CXCR4, DCLK1 and EMT markers such as VIM and E-cadherin. Material and Methods: This study was an in vitro study involving PC-3 cell line which was dividing into four groups. Group I (CO): Control group composed of cells grown in the same medium without treatment with ionizing radiation or resveratrol. Group II (IR): Cells were treated with ionizing radiation alone. Group III (RV): Cells were treated with resveratrol alone. Group VI (IR&RV): The cells were treated with ionizing radiation and resveratrol in combination. The viability of cells was assessed by MTT assay. Genes of interest were measured by RT-PCR and the radiosensitizing efficacy of RV on proliferating cancer cells was determined by clonogenic assay. Results: Ionizing radiation significantly reduced PC-3 viability, lowered stem cell markers and affected epithelial to mesenchymal transition (EMT) genes expression at all doses (2, 4, 6 and 8 Gray). Resveratrol significantly decreased PC-3 viability and lowered stem cell markers and EMT genes expression at concentrations 35, 70 and 140 µM. Combining resveratrol treatment with ionizing radiation leads to significant reduction in cell viability and stem cell markers genes which was noticed with increasing the radiation dose when compared to ionizing radiation alone treated group. Conclusion: Resveratrol has a radiosensitizing effect, that ability is triggered by reducing the expression of cancer stem cell markers and affecting EMT markers. Resveratrol showed to be a good candidate for further studies as anticancer drug in the treatment of human prostate cancer. 相似文献
35.
Background
Pain and/or functional disorders, such as weakness or movement control disorders, often have a myofascial origin. The pathophysiological substrates of myofascial problems are myofascial trigger points (mTrP) and reactive connective tissue alterations. Typical for myofascial pain is that the site of the origin of pain and the site of pain perception often do not lie in the same place (referred pain). Myofascial disorders can have a primary or a secondary cause and often make a substantial contribution to stimulus summation problems. In the process of clinical reasoning it needs to be investigated what value mTrP and fascial alterations have for the current problem in question (e.g. primary, secondary and contribution to stimulus summation).Methods
The causal and sustained therapy of myofascial disorders considers the contractile part of muscle (contracture knots) as well as the noncontractile parts (reactive connective tissue alterations). Predisposition and maintaining factors have to be recognized and if possible included in the therapy, depending on the necessity. The trigger point therapy IMTT® (“Interessengemeinschaft für Myofasziale Triggerpunkt-Therapie”) encompasses manual techniques and if necessary dry needling for deactivation of the disruption potential of mTrP, stretching/detonization and functional training/ergonomics. 相似文献36.
J. F. Samsom C. Jakobs P. G. Barth J. I. P. de Vries F. H. Menko W. Ruitenbeek B. A. van Oost 《European journal of pediatrics》1994,153(7):510-516
In two sibs antenatal ultrasonography revealed identical intracranial calcification, ventricular widening and microcephaly. The first pregnancy was artificially terminated at 19 weeks. Post-mortem examination of the brain revealed destructive calcification and extracerebral neuronal heterotopia. The second sib went to term but died 48 h after birth from irreversible lactic acidosis. Autopsy showed extensive encephalopathy with cavitation and calcification in the cerebral hemispheres, polymicrogyria, multiple neuronal heterotopia, partial callosal dysgenesis, and severe Leigh syndrome, together forming a continuum of early and late brain disruption. Mitochondrial respiratory chain abnormalities, mainly affecting complexes I and IV, and deficiency of pyruvate dehydrogenase complex were detected in skeletal muscle and in liver. A normal functioning of the respiratory chain was found in the fibroblasts. Analysis of mtDNA from muscle, liver and blood revealed normal amounts of intact mtDNA without any of the known point mutations associated with MELAS, MERRF or Leigh syndromes. The early fetal disruption and necrotic changes in the brains of sibs indicate a specific genetically determined disorder which affects neuronal migration, a finding not previously associated with respiratory chain disorders. The present disorder may mimic antenatal congenital infectious encephalopathy because of the combined finding of microcephaly and destructive intracerebral calcification. 相似文献
37.
38.
刺南蛇藤倍半萜的研究 总被引:1,自引:0,他引:1
从刺南蛇藤(Celastrus flagelaris Rupr.)种子油中分离到八个β-二氢沉香呋喃倍半萜,经红外、紫外、质谱及核磁共振谱确定它们的结构是1α-乙酰氧基-2α,9β-二肉桂酰氧基-β-二氢沉香呋喃(1),1α,6β,13-三乙酰氧基-9β-苯甲酰氧基-β-二氢沉香呋喃-(2),triptogelinG-1(3),1α,6β-二乙酰氧基-9β-苯甲酰氧基-β-二氢沉香呋喃(4),triptogelinF-2(5),1α,2α-二乙酰氧基-9β-肉桂酰氧基-β-二氢沉香呋喃(6),celaforlinB-3(7),1α,6β-二乙酰氧基-8α-肉桂酰氧基-9α-苯酰氧基-β-二氢沉香呋喃(8)。其中1是新化合物,命名为celastrine B。 相似文献
39.
40.