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941.
Respiratory function in cybrid cell lines carrying European mtDNA haplogroups: implications for Leber's hereditary optic neuropathy 总被引:1,自引:0,他引:1
Carelli V Vergani L Bernazzi B Zampieron C Bucchi L Valentino M Rengo C Torroni A Martinuzzi A 《Biochimica et biophysica acta》2002,1588(1):7-14
The possibility that some combinations of mtDNA polymorphisms, previously associated with Leber's hereditary optic neuropathy (LHON), may affect mitochondrial respiratory function was tested in osteosarcoma-derived transmitochondrial cytoplasmic hybrids (cybrids). In this cellular system, in the presence of the same nuclear background, different exogenous mtDNAs are used to repopulate a parental cell line previously devoid of its original mtDNA. No detectable differences in multiple parameters exploring respiratory function were observed when mtDNAs belonging to European haplogroups X, H, T and J were used. Different possible explanations for the previously established association between haplogroup J and LHON 11778/ND4 and 14484/ND6 pathogenic mutations are discussed, including the unconventional proposal that mtDNA haplogroup J may exert a protective rather than detrimental effect. 相似文献
942.
A listing of human tumor antigens recognized by T cells 总被引:27,自引:7,他引:20
943.
Site-specific phosphorylation is a fast and reversible covalent post-translational modification that is tightly regulated in cells. The cellular machinery of enzymes that write, erase and read these modifications (kinases, phosphatases and phospho-binding proteins) is frequently deregulated in different diseases, including cancer. Large-scale studies of phosphoproteins – termed phosphoproteomics – strongly rely on the use of high-performance mass spectrometric instrumentation. This powerful technology has been applied to study a great number of phosphorylation-based phenotypes. Nevertheless, many technical and biological challenges have to be overcome to identify biologically relevant phosphorylation sites in cells and tissues. This review describes different technological strategies to identify and quantify phosphorylation sites with high accuracy, without significant loss of analysis speed and reproducibility in tissues and cells. Moreover, computational tools for analysis, integration and biological interpretation of phosphorylation events are discussed. 相似文献
944.
Marco Maccaferri Rossella Francia Claudio Ratti Concepcion Rubies-Autonell Chiara Colalongo Gianluca Ferrazzano Roberto Tuberosa Maria Corinna Sanguineti 《Molecular breeding : new strategies in plant improvement》2012,29(4):973-988
Genetic analysis of Soil-Borne Cereal Mosaic Virus (SBCMV) resistance in durum wheat was carried out using a population of 180 recombinant inbred lines (RILs) obtained from
Simeto (susceptible) × Levante (resistant). The RILs were characterized for SBCMV response in the field under severe and uniform
SBCMV infection in two growing seasons and genotyped with simple sequence repeat (SSR) and Diversity Arrays Technology? markers. Transgressive segregation was observed for disease reaction as estimated by symptom severity scores and virus concentration
in leaves. Heritability of the disease response was high, with h
2 values consistently above 80%. A major quantitative trait locus (QTL) (QSbm.ubo-2BS) in the distal telomeric region of chromosome 2BS accounted for 60–70% of the phenotypic variation for symptom severity,
40–55% for virus concentration and 15–30% for grain yield. The favorable allele was contributed by Levante. Seven additional
QTL influenced SBCMV resistance, with the low-susceptibility allele contributed by Levante at five QTL and by Simeto at the
remaining two. The meta-QTL analysis carried out using the data from two mapping populations (Simeto × Levante and Meridiano × Claudio)
suggests that in both populations SBCMV resistance is likely controlled by QSbm.ubo-2BS. Our results confine QSbm.ubo-2BS to a c. 2-cM-wide interval flanked by SSR markers that are already being used for marker-assisted selection. 相似文献
945.
Merigliano Chiara Mascolo Elisa Cesta Anthony Saggio Isabella Vernì Fiammetta 《Chromosoma》2019,128(1):41-52
Chromosoma - Aurora-A is a conserved mitotic kinase overexpressed in many types of cancer. Growing evidence shows that Aurora-A plays a crucial role in DNA damage response (DDR) although this... 相似文献
946.
Human pulmonary dirofilariasis: report of a new European case 总被引:1,自引:0,他引:1
G Fabbretti F Fedeli A Alessi M Boaron V Salpietro M Brisigotti 《Histology and histopathology》1990,5(3):311-313
We report a new European case of pulmonary dirofilariasis occurring in an Italian patient. The paper emphasizes the peculiar pathological features of Pulmonary Dirofilariasis, that, on clinical and radiological grounds, closely imitates primary or secondary neoplasms. The disease characteristically presents itself as a solitary subpleural coin-like lesion, histologically corresponding to a well demarcated, roughly spherical infarct, centered by a medium-sized thrombosed artery whose lumen contains the parasite, i.e. a Dirofilaria nematode. 相似文献
947.
Chiara Ziello Andreas Böck Nicole Estrella Donna Ankerst Annette Menzel 《Ecography》2012,35(11):1017-1023
Increasing risk of pollinosis (hay fever) is one of the most anticipated consequences of climate change on human health. Wind‐pollinated plants are representative of allergenic species because they include species with the highest capability of causing allergy‐related diseases in humans. Therefore, changes in wind‐pollinated species may reflect impacts of climate change on allergenic plants. In particular, flowering is one of the developmental stages most affected by climate change. This report specifically addresses changes in flowering dates that have occurred during the three decades 1971–2000 as a function of pollination mode and woodiness. The assessment is made using a phenological data set comprising trends of flowering dates of 29 species in 983 locations in Europe. Linear mixed models assessing the statistical significance of trends while adjusting for spatial correlation are used. The main results indicate for the first time that the onset of flowering of wind‐pollinated plants advanced more than for insect‐pollinated plants, while full flowering phases tended to advance less. These novel findings are contrary to the results of Fitter and Fitter (2002) for Oxfordshire, who reported larger advances of insect‐pollinated plants. Onset of flowering and full flowering of insect‐pollinated species are more likely to advance for seasons early in the year; instead, wind‐pollinated plants showed no dependence of trends on the season (first flowering) or a decreased advance of phases that are early in the year (full flowering). The effect of woodiness could not be unambiguously defined, but seems to be of minor importance. The presented findings suggest a lengthening of the flowering period in general, which might lead to an increasing time of exposure to airborne pollen of allergic subjects, with consequent likely increment in severity and incidence of allergic symptoms. 相似文献
948.
Elisa Franzolin Cristiano Salata Vera Bianchi Chiara Rampazzo 《The Journal of biological chemistry》2015,290(43):25986-25996
The dNTP triphosphohydrolase SAMHD1 is a nuclear antiviral host restriction factor limiting HIV-1 infection in macrophages and a major regulator of dNTP concentrations in human cells. In normal human fibroblasts its expression increases during quiescence, contributing to the small dNTP pool sizes of these cells. Down-regulation of SAMHD1 by siRNA expands all four dNTP pools, with dGTP undergoing the largest relative increase. The deoxyguanosine released by SAMHD1 from dGTP can be phosphorylated inside mitochondria by deoxyguanosine kinase (dGK) or degraded in the cytosol by purine nucleoside phosphorylase. Genetic mutations of dGK cause mitochondrial (mt) DNA depletion in noncycling cells and hepato-cerebral mtDNA depletion syndrome in humans. We studied if SAMHD1 and dGK interact in the regulation of the dGTP pool during quiescence employing dGK-mutated skin fibroblasts derived from three unrelated patients. In the presence of SAMHD1 quiescent mutant fibroblasts manifested mt dNTP pool imbalance and mtDNA depletion. When SAMHD1 was silenced by siRNA transfection the composition of the mt dNTP pool approached that of the controls, and mtDNA copy number increased, compensating the depletion to various degrees in the different mutant fibroblasts. Chemical inhibition of purine nucleoside phosphorylase did not improve deoxyguanosine recycling by dGK in WT cells. We conclude that the activity of SAMHD1 contributes to the pathological phenotype of dGK deficiency. Our results prove the importance of SAMHD1 in the regulation of all dNTP pools and suggest that dGK inside mitochondria has the function of recycling the deoxyguanosine derived from endogenous dGTP degraded by SAMHD1 in the nucleus. 相似文献
949.
Barbara Borroni Mario Grassi Chiara Agosti Barbara Paghera Antonella Alberici Monica Di Luca Daniela Perani Alessandro Padovani 《BMC neurology》2007,7(1):9
Background
Frontotemporal Lobar Degeneration (FTLD) thus recently renamed, refers to a spectrum of heterogeneous conditions. This same heterogeneity of presentation represents the major methodological limit for the correct evaluation of clinical designation and brain functional correlates. At present, no study has investigated clinical clusters due to specific cognitive and behavioural disturbances beyond current clinical criteria. 相似文献950.
Natalie Prinzi Salvatore Sorrenti Enke Baldini Corrado De Vito Chiara Tuccilli Antonio Catania Carmela Coccaro Marta Bianchini Angela Nesca Giorgio Grani Renzo Mocini Enrico De Antoni Massimino D’Armiento Salvatore Ulisse 《PloS one》2015,10(3)
We here analyzed the prevalence of extra-thyroidal malignancies (EM) in 6,386 female patients affected by different thyroid disease (TD). At first, an age-matched analysis of EM in all patients was performed. We then evaluated EM prevalence in four TD diagnostic categories: non-nodular TD (n = 2,159); solitary nodule (n = 905); multinodular TD (n = 2,871); differentiated thyroid cancers (n = 451). Finally, patients were grouped based on the absence (n = 3,820) or presence of anti-thyroglobulin (TgAb) and/or anti-thyroperoxidase (TPOAb) (n = 2,369), or anti-Thyroid Stmulating Hormone (TSH) receptor autoantibodies (n = 197). A total of 673 EM were recorded. EM prevalence in TD patients was higher compared to the general population (Odds Ratio, OR 3.21) and the most frequent EM was breast cancer (OR 3.94), followed by colorectal (OR 2.18), melanoma (OR 6.71), hematological (OR 8.57), uterus (OR 2.52), kidney (OR 3.40) and ovary (OR 2.62) neoplasms. Age-matched analysis demonstrated that the risk of EM was maximal at age 0–44 yr (OR 11.28), remaining lower, but significantly higher that in the general population, in the 45–59 and 60–74 year age range. Breast and hematological malignancies showed an increased OR in all TD, while other cancers associated with specific TD. An increased OR for melanoma, breast and hematological malignancies was observed in both TPOAb and/or TgAb autoantibody negative and positive patients, while colorectal, uterus, kidney and ovary cancers showed an increased OR only in thyroid autoantibody negative patients. In conclusions, women affected by both benign and malignant TD, especially at a younger age and in absence of thyroid autoimmunity, have an increased risk of developing primary EM, thus requiring a careful follow-up and surveillance. 相似文献