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71.
FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing. 总被引:8,自引:0,他引:8 下载免费PDF全文
G. A. Meyers D. Day R. Goldberg D. L. Daentl K. A. Przylepa L. J. Abrams J. M. Graham Jr M. Feingold J. B. Moeschler E. Rawnsley A. F. Scott E. W. Jabs 《American journal of human genetics》1996,58(3):491-498
Fibroblast growth factor receptor 2 (FGFR2) mutations have been associated with the craniosynostotic conditions Crouzon, Jackson-Weiss, and Pfeiffer syndromes. Previously, mutations were described in the exons IIIa and IIIc, which form the extracellular, third immunoglobulin-like domain (IgIII) and adjacent linker regions, both of which are normally involved in ligand binding. For all three conditions, mutations were found in exon IIIc. Only in Crouzon syndrome were mutations identified in exon IIIa. In this study, 39 cases with one of these three conditions were screened for exon IIIa or IIIc mutations. Eleven mutations are reported in 17 unrelated cases. Mutations in exon IIIa are identified for not only Crouzon but also Jackson-Weiss and Pfeiffer syndromes. Four mutations in either exon IIIa or exon IIIc reported only in Crouzon syndrome are present also in one of the other two syndromes. Two insertions, one in exon IIIa in a Crouzon syndrome patient and the other in exon IIIc in a Pfeiffer syndrome patient, were observed. The latter mutation has the same alternative RNA splicing effect as a reported synonymous mutation for Crouzon syndrome. A missense mutation was detected in one Pfeiffer syndrome family in which two members had craniosynostosis without limb anomalies. The inter- and intrafamilial variability in expression of FGFR2 mutations suggests that these three syndromes, presumed to be clinically distinct, are instead representative of a spectrum of related craniosynostotic and digital disorders. 相似文献
72.
Using scanning electron microscopy (SEM), differential interference contrast microscopy (DICM) and cytochemical staining techniques, preliminary observations have been made on the mechanisms of attachment of some common, marine, benthic fouling blue-green algae ("cyanobacteria") isolated into culture from various toxic and non-toxic surfaces in Langstone Harbour, south coast of England. Blue-green algae investigated included species of Calothrix, Dermocarpa, Plectonema, Phormidium and Xenococcus. The blue-green algae are rapid colonisers and can make an important contribution to the pioneering communities on both toxic and non-toxic surfaces. A characteristic feature of the colonization process is the production of variable quantities of extracellular polymeric substances (EPS) which appear to function as adhesives. Cytochemical staining revealed the EPS to be an acidic polysaccharide and, therefore, chemically similar to the EPS produced by sessile diatoms. It is suggested that the EPS additionally assists in cell motility, acts as an antidesiccant and may influence the fouling process by combining with antifouling paint toxins and modifying the surface energy of substrata. 相似文献
73.
This essay is excerpted from Alfred I. Tauber,The Immune Self: Theory or Metaphor? (New York and Cambridge: Cambridge University Press, 1994). 相似文献
74.
Nickel hyperaccumulating plants have more than 1000 mg Ni kg–1 dry weight when grown on nickel-bearing soils. We hypothesized that Ni hyperaccumulation could serve as a chemical defense against herbivores In feeding experiments with potential insect herbivores and Ni hyperaccumulating plants, only those inseets fed leaves from plants grown on non-nickel-bearing soil survived or showed a weight gain. Among chemical parameters measured, only Ni content of plants was sufficient to explain this result. When subjected to herbivory by lepidopteran larvae, plants grown on Ni-amended soil showed greater survival and yield than plants on unamended soil. Ni hyperaccumulation may be an effective plant chemical defense against herbivores because of its high lethality, apparent low cost, and broad spectrum of toxicity. 相似文献
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PrP accumulation in the brains of mice infected with scrapie takes several different forms: amyloid plaques, widespread accumulation
in neuropile, and perineuronal deposits. PrP is also sometimes detected within microglia and in or around astrocytes. There
are dramatic and reproducible differences between scrapie strains in the relative prominence of these changes and their distribution
in the brain. Depending on the scrapie strain, PrP pathology is targeted precisely to particular brain areas, often showing
a clear association with identifiable groups of neurons. These results suggest that PrP changes are primarily associated with
neurons, and that different scrapie strains recognize and selectively replicate in different populations of neurons. Immunostaining
at the ultrastructural level demonstrates an association of PrP with neurite plasmalemma, around amyloid plaques, and in areas
of widespread neuropile and perineuronal accumulation. It is probable that PrP is encoded by theSinc gene, which controls the incubation period of scrapie in mice. Studies using the intraocular infection route show that theSinc gene controls the onset rather than the rate of replication, suggesting that PrP may be involved in cell-to-cell spread of
infection. The accumulation of PrP at the surface of neurons is consistent with such a role. 相似文献
78.
Psychological perspectives of ecosystem health 总被引:1,自引:0,他引:1
E. Scott Geller 《Journal of Aquatic Ecosystem Stress and Recovery (Formerly Journal of Aquatic Ecosystem Health)》1994,3(1):59-62
Behavior-based and person-based perspectives are integrated to summarize approaches for dealing with the human element of ecosystem health. Behavior is selected by its consequences, and therefore interventions are needed to decrease the natural reinforcing consequences (e.g., convenience, efficiency) of environment-destructive behaviors and to increase the reinforcing consequences of environment-protective behaviors. An ABC Model (for Activator-Behavior-Consequence) can be applied effectively to design intervention programs for benefiting the human behavior aspects of ecosystem health. However, intervention agents are needed to implement positive behavior-change techniques, and this requires people to actively care enough to emit other-directed (or altruistic) behaviors for the health of the ecosystem. Person factors which influence one's propensity to actively care include: self-esteem, belongingness, and empowerment, influenced by perceptions of self-efficacy (I can do it), personal control (I am in control), and optimism (I expect the best). Strategies are reviewed for increasing these person states or expectancies. The health of our ecosystem depends upon people changing their behaviors and attitudes regarding the environment. Behavior-based psychology offers the technology for changing behaviors and attitudes in desirable directions; person-based psychology offers the states or expectancies needed in people to increase their willingness to actively care for the environment. By applying the theory and principles from these subdisciplines of applied psychology, the critical human element of our ecosystem can be accounted for and managed effectively. 相似文献
79.
80.
William J. DeVito Crystal Avakian Scott Stone William C. Okulicz 《Journal of neurochemistry》1993,60(3):835-842
Abstract: Prolactin (PRL) has been reported to activate cellular proliferation in nonreproductive tissue, such as liver, spleen, and thymus. Recently, we have extended the possible role of PRL as a mammalian mitogen by demonstrating a mitogenic effect of PRL in cultured astrocytes. Although the cellular mechanisms by which PRL regulates cell growth are not fully understood, protein kinase C (PKC) has been implicated as one of the transmembrane signaling systems involved in the regulation of PRL-induced cell proliferation in Nb2 lymphoma cells and liver. In the present studies, we examined the possible role of PKC in PRL-induced proliferation of cultured astrocytes. Incubation of cultured astrocytes with 1 nM PRL resulted in a rapid translocation of PKC from the cytosol to the membrane, with maximal PKC activity in the membrane occurring 30 min after exposure to PRL. Translocation of PKC activity occurred over a physiological range of PRL, with maximal PKC activation occurring at 1 nM. At concentrations greater than 10 nM PRL, there was a decrease in the amount of PKC activity associated with the membrane fraction compared with that of cells stimulated with 1 nM PRL. Incubation of astrocytes with PRL in the presence of the PKC inhibitors staurosporine, 1-(-5-isoquinolinesulfonyl)-2-methylpiperazine, or polymyxin B blocked the PRL-induced increase in cell number with IC50 values of approximately 2 nM, 10 μM, and 6 μM, respectively. PKC is the only known cellular receptor for 12-O-tetradecanoylphorbol 13-acetate (TPA), which stimulates the translocation of PKC from the cytosol to the membrane. Incubation of astrocytes with 20 nM TPA resulted in an increase in the expression of proliferating cell nuclear antigen and cell number, whereas 4α-phorbol 12,13-didecanoate, an inactive phorbol ester, was ineffective. To examine further the effect of TPA and PRL on cellular proliferation, cultured astrocytes were incubated with increasing concentrations of TPA in the presence or absence of a minimal effective dose of PRL (100 pM). In the absence of PRL, incubation with TPA resulted in an inverted U-shaped dose-response curve, with 100 nM TPA resulting in a maximal increase in cell number. In the presence of 100 pM PRL, the TPA dose-response curve was shifted to the left, with maximal activity occurring with 10 nM TPA. Chronic stimulation of astrocytes with 500 nM TPA depleted the cells of PKC and blocked the PRL-induced increase in cell number. Finally, TPA treatment decreased cell-surface binding of 125I-PRL. These data indicate that the PKC is involved in the mitogenic effect of PRL in cultured astrocytes. 相似文献