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We report the identification of a TaqI dimorphic site in the first intron of a human phospholipase A2 gene that has been localized on chromosome 12. This single two-allele polymorphism was detected by DNA blot hybridization using a full-length, 584 bp human phospholipase A2 cDNA isolated from a human lung gt10 cDNA library. Fragment lengths were detected at either 1.3 kb or 2.2 kb. The PIC value of this dimorphism was 0.369 in a random population of 353 Caucasians. 相似文献
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Janaka?WeragodaEmail author Rohini?Seneviratne Manuj?C.?Weerasinghe SM?Wijeyaratne 《BMC research notes》2016,9(1):508
Background
Peripheral artery disease (PAD) is an important global health problem and contributes to notable proportion of morbidity and mortality. This particular manifestation of systemic atherosclerosis is largely under diagnosed and undertreated. For sustainable preventive strategies in a country, it is mandatory to identify country-specific risk factors. We intended to assess the risk factors of PAD among adults aged 40–74 years.Methods
This case control study was conducted in 2012–2013 in Sri Lanka. Seventy-nine cases and 158 controls in the age group of 40–74 years were selected for the study in order to have case to control ratio 1:2. The criterion for selecting cases and control was based on Ankle brachial pressure index (ABPI). Cases were selected from those who had ABPI 0.85 or less (ABPI ≤0.85) in either lower limb. Controls were selected from those ABPI score between 1.18 and 1.28 in both lower limbs. Only newly identified individuals with PAD were selected as cases. Controls were selected from the same geographical location and within the 5 year age group as cases.Results
The history of diabetes mellitus more than 10 years (OR 5.8, 95% CI 2.2–14.2), history of dyslipidemia for more than 10 years (OR 4.9, 95% CI 2.1–16.2), history of hypertension for more than 10 years (OR 3.8, 95% CI 1.8–12.7) and smoking (OR 2.9, 95% CI 1.2–6.9), elevated HsCRP (OR 3.7, 95% CI 1.2–12.0) and hyperhomocysteinemia (OR 3.0, 95% CI 1.1–8.1) were revealed as country specific significant risk factor of PAD.Conclusions
Diabetes mellitus, hypertension, dyslipidemia, smoking as well as elevated homocysteine and HsCRP found as risk factors of PAD. Longer the duration or higher level exposure to these risk factors has increased the risk of PAD. These findings emphasis the need for routine screening of PAD among patients with the identified risk factors.7.
Toluene diisocyanate (TDI) is a highly volatile chemical known to cause occupational asthma in exposed workers. TDI-induced asthma is associated with airway epithelium injury and repair, and subepithelial fibrosis. We investigated the effect of TDI and its hydrolysis products, the 2,4- and 2,6-toluenediamines (TDA), on viability and growth of human lung fibroblasts (HLFs) in culture, using a tetrazolium-based cell viability assay. The effects of increasing concentrations of each of these chemicals were evaluated on quiescent cells seeded at two densities (2500 and 5000 cells/well) and treated for 24 or 48 h. TDI (10–4–10–5 mol/L, as a mixture of 80% 2,4-TDI and 20% 2,6-TDI) exhibited a partial but significant cytotoxic effect (10–24%, p<0.05) on HLFs. This effect was observed at both cell densities, and was time- and concentration-dependent. 2,4-TDA, at lower concentrations (10–8–10–6 mol/L) applied for 48 h, also partially reduced HLF viability (10–15%, p<0.05), whereas it tended to trigger cell growth at concentrations higher than 10–5 mol/L. 2,6-TDA exhibited both a cytotoxic and a proliferative effect on HLFs that depended on concentration, time of exposure and cell culture density. Significant cytotoxicity was only observed after 24 h of treatment with 10–7–10–6 mol/L 2,6-TDA, and reached greater intensity in cells cultured at the highest density. In contrast, 2,6-TDA stimulated HLF growth only after 48 h of incubation at 10–4 mol/L on cells cultured at the lowest density. Taken together, our results showed that TDI and 2,4-TDA somewhat decreased HLF viability, whereas 2,6-TDA appeared to exhibit both a cytotoxic and a growth stimulatory effect on these cells. TDI and 2,4-TDA are thus suggested to contribute to airway epithelium damage associated with TDI-induced asthma, whereas 2,6-TDA might either trigger epithelial damage or induce cell proliferation that could contribute to epithelium repair or subepithelial fibrosis. 相似文献
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Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany,Turkey, Palestine,and the United Arab Emirates 总被引:7,自引:0,他引:7
Eckl KM Stevens HP Lestringant GG Westenberger-Treumann M Traupe H Hinz B Frossard PM Stadler R Leigh IM Nürnberg P Reis A Hennies HC 《Human genetics》2003,112(1):50-56
Mal de Meleda (MDM) or keratosis palmoplantaris transgrediens of Siemens is an autosomal recessive skin disorder characterized by diffuse palmoplantar keratoderma (PPK) and transgressive keratosis with an onset in early infancy. There is no associated involvement of other organs; however, a spectrum of clinical presentations with optional and variable features has been described. Mutations in the ARS (component B)-81/s gene ( LY6LS) on chromosome 8q24-qter, which encodes SLURP-1, have recently been identified in patients with MDM. Here, we have analyzed four MDM families for mutations in SLURP-1. In a large Palestinian pedigree with multiple consanguinity, patients are homozygous for a new mutation that substitutes an arginine for a conserved glycine residue at position 86. A different mutation in Turkish patients results in the same amino acid exchange. Some remarkable similarities are seen in the clinical picture of patients from both families. Patients of an Emirati Bedouin family have a homozygous alteration of the translation initiation codon. In a German family with no known consanguinity, we have shown pseudodominant inheritance. Three affected children and their affected mother are homozygous for the missense mutation W15R. Our findings indicate that the MDM type of transgressive PPK is caused by SLURP-1 mutations in patients from various origins and demonstrate allelic heterogeneity for mutations in SLURP-1. 相似文献
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Fine root growth and element concentrations of Norway spruce as affected by wood ash and liquid fertilisation 总被引:3,自引:1,他引:2
M. Genenger S. Zimmermann D. Hallenbarter W. Landolt E. Frossard I. Brunner 《Plant and Soil》2003,255(1):253-264
A field experiment to test various management practices of sustainable forestry was conducted in a Swiss spruce forest for two growing seasons. Treatments were a control (C), yearly application of 4000 kg ha–1 wood ash (A), daily irrigation with a steady state fertilisation as `optimal nutrition` (F) and irrigation with a water control (W). Samples were taken on a 5 × 5 m grid once a year with a soil corer to determine fine root biomass ( 2 mm) and soil pH of the topsoil. A subset of the fine root samples was further analysed for its nutrient composition by CN and ICP-AES analyses. The dynamics of root growth were observed with the aid of ingrowth-cores after 1, 1.5, and 2 years of treatment and the growth pattern was analysed in terms of biomass, tips, forks, length and root diameter of the samples. The A, F and also the W treatment resulted in a significant increase of soil pH in the topsoil. The fine root density increased over the two growing seasons, irrespective of the treatment. The root growth was only slightly different between the treatments with a initially faster growth under the A treatment. The W treatment reduced the number of root tips and forks, and the root length, while the A treatment increased the number of root tips, forks and the root length, but reduced the diameter. The differences between the three harvesting times (March 1999, October 1999, March 2000) of the ingrowth-cores stressed seasonal differences in root growth and the development of quasi `steady state' root dynamics. The root turnover was not changed by the treatments. The elements in the fine roots were strongly affected by the treatments A and F and sometimes by W. Fine root N increased with the F treatment, while C concentrations decreased under the A, F and W treatments. The Ca and Mg concentrations were strongly enhanced by A but also by the F treatment. The K and P concentrations in the fine roots were improved by all three applications. Due to the pH increase Al, Fe and Mn concentrations in the fine roots were decreased by the A and F treatments. S and Zn concentrations showed inconsistent changes over the growing seasons. The results of this study were comparable with those of other studies in Europe and confirm the abilities of the fine roots as indicators of forest nutrition, to some extent more sensitive than the commonly used foliar analysis. 相似文献
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Wirth S van den Broek M Frossard CP Hügin AW Leblond I Pircher H Hauser C 《Cellular immunology》2000,202(1):13-22
Effector T cells secreting type 1 and/or type 2 lymphokines (Tc1, Tc0, Tc2) were generated in vitro from CD8(+) T cells of mice with a transgenic TCR recognizing lymphocytic choriomeningitis virus (LCMV) glycoprotein to compare their effector function in vitro and in vivo. Tc1, Tc2, and Tc0 showed similar Fas- and perforin-mediated cytotoxicity in vitro. Upon adoptive transfer, Tc2 and Tc0 effectors were less efficient than Tc1 at controlling LCMV or recombinant vaccinia virus expressing the LCMV glycoprotein in vivo. Tc2 and Tc0 had decreased surface VLA-4 density and deficient activation-induced LFA-1/ICAM-1-dependent homotypic adhesion in vitro. Therefore, the reduced antiviral activity in vivo of Tc2 and Tc0 compared with Tc1 is not due to reduced cytotoxic activity or IFN-gamma secretion but may be explained by defective homing to the target organ due to decreased expression and/or lower activity of adhesion molecules. 相似文献