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81.
82.
Hofstra RM Mulder IM Vossen R de Koning-Gans PA Kraak M Ginjaar IB van der Hout AH Bakker E Buys CH van Ommen GJ van Essen AJ den Dunnen JT 《Human mutation》2004,23(1):57-66
Duchenne and Becker muscular dystrophy (DMD and BMD) are caused by mutations in the dystrophin gene. Large rearrangements in the gene are found in about two-thirds of DMD patients, with approximately 60% carrying deletions and 5-10% carrying duplications. Most of the remaining 30-35% of patients are expected to have small nucleotide substitutions, insertions, or deletions. To detect these subtle changes within the coding and splice site determining sequences of the dystrophin gene, we established a semiautomated denaturing gradient gel electrophoresis (DGGE) mutation scanning system. The DGGE scan covers the dystrophin gene with 95 amplicons, PCRed either individually or in a multiplex setup. PCR and pooling were performed semiautomatically, using a pipetting robot and 384-well plates, enabling concurrent amplification of DNA of four patients in one run. Amplification of individual fragments was performed using one PCR program. The products were pooled just before gel loading; DGGE requires only a single gel condition. Validation was performed using DNA samples harboring 39 known DMD variants, all of which could be readily detected. DGGE mutation scanning was applied to analyze 135 DMD/BMD patients and potential DMD carriers without large deletions or duplications. In DNA from 25 out of 44 DMD patients (57%) and from 5 out of 39 BMD patients (13%), we identified clear pathogenic changes. All mutations were different, with the exception of one DMD mutation, which occurred twice. In DNA from 10 out of 44 potential DMD carriers, including four obligate carriers, we detected causative changes, including one pathogenic change in every obligate carrier. In addition to these pathogenic changes, we detected 15 unique unclassified variants, i.e., changes for which a pathogenic nature is uncertain. 相似文献
83.
84.
The effects of cholera toxin on tissue osmolality and on net transport rates of water, sodium, chloride and potassium as well as on unidirectional fluxes of water and sodium were studied in vivo. In all experiments the toxin caused a net secretion of water, sodium, chloride and potassium. The unidirectional sodium transport from tissue to lumen was increased while the flux in the opposite direction was reduced 180 min after cholera toxin instillation. Cholera toxin produced only a small reduction in the villous tissue hyperosmolality, created by the intestinal countercurrent exchanger. This reduction was far too small to explain the observed net secretion of fluid and solutes induced by the cholera toxin. Other mechanisms underlying the cholera secretion are discussed. 相似文献
85.
Inge Van de Walle Karen Silence Kevin Budding Liesbeth Van de Ven Kim Dijkxhoorn Elisabeth de Zeeuw Cafer Yildiz Sofie Gabriels Jean-Michel Percier Johanna Wildemann Jan Meeldijk Peter J. Simons Louis Boon Linda Cox Rob Holgate Rolf Urbanus Henny G. Otten Jeanette H.W. Leusen Peter Boross 《The Journal of allergy and clinical immunology》2021,147(4):1420-1429.e7
86.
BACKGROUND: Personality structure obtained from the psychobiological Temperament and Character Inventory (TCI) was studied in relation to self-reported seasonal variations in mood and behavior measured by the Seasonal Pattern Assessment Questionnaire (SPAQ). METHODS: The subjects comprised 1761 adults (57.6% women) in the age range 35-85 years, enrolled in the Betula prospective random cohort study of Umea, Sweden. RESULTS: Personality profiles of subjects who reported the occurrence of a high degree of seasonal variation as such were associated with a combination of high self-transcendence (ST) and high persistence (PS), irrespective of the level of harm avoidance (HA). Subjects who reported feeling worst in winter were associated with high HA, irrespective of the levels of ST and PS. Also, subjects feeling worst in summer or experiencing overall problems with seasonal variation were associated with high HA in their personality profiles. Using the SPAQ criteria to define seasonal affective disorder (SAD) or subsyndromal SAD (S-SAD), subjects with these disorders often had combinations of high self-transcendence (ST) and high persistence (PS), but with different associations with HA. LIMITATIONS: No evaluations were made for SAD or subsyndromal SAD according to the DSM-IV or ICD 10 criteria. CONCLUSIONS: Our results relating SPAQ with TCI give support for a dual vulnerability hypothesis for seasonal depression proposed in the literature, where it is attributed to a combination of a seasonal factor and a depression factor. Examining the literature regarding the relationships between the different TCI scales and monoamine neurotransmitter functions, those relationships suggest that these two vulnerability factors for seasonal depression may be modulated by different neurotransmitter systems. 相似文献
87.
Monoclonal antibodies specific for the two types of wall-forming bodies of Eimeria tenella macrogametes (Coccidia, Apicomplexa) 总被引:1,自引:0,他引:1
Two monoclonal antibodies (mAbs) raised against the macrogamonts of Eimeria tenella identified antigens located in the wall-forming bodies of type I (WF I) and type II (WF II) by indirect immunofluorescence and by immunoelectron microscopy. With these mAbs, the involvement of both types of wall-forming body at the protein level in the formation of the inner and outer oocyst walls of E. tenella was shown by indirect immunofluorescence assay. On Western blots of pure macrogamont, mAb E1D8 against WF I reacted with a series of bands between 42 kDa and 105 kDa. In pure, unsporulated extract, this mAb recognized a complex of bands between 26 kDa and 153 kDa. mAb E2E5 against WF II, on Western blots of pure extract of macrogamonts, recognized an antigen of 51 kDa. Later in the development, after the formation of the inner oocyst wall, mAb E2E5 reacted with three polypeptide of 23, 25 and 30 kDa. Proteolytic processing may be forwarded as the mechanism regulating the distinct regulation protein involved in the oocyst wall. 相似文献
88.
Summary Varying host reaction of the house fly, Musca domestica L., to parasitism by the braconid Aphaereta pallipes (Say) was chiefly correlated with the diet of the host. Some evidence was found that implicated the strain of the host, the rearing temperatures, the ages of the parasitoid and the host, and the site of oviposition. Though development of A. pallipes embryos was inhibited before they became encapsulated with melanin within the host, the presence of the parasitoid and (or) the effect of its paralyzing toxin that was injected into the host just before oviposition prevented normal larval, pupal, or adult development of the six house fly strains tested. A considerable increase of parasitoid survival occurred when M. domestica larvae were reared on a chemically defined diet.
With 8 Figures in the Text
Formerly National Research Council Postdoctorate Fellow, Research Institute, Belleville, Ontario. 相似文献
Zusammenfassung Musca domestica L. reagierte unterschiedlich auf die Parasitierung durch die Braconide Aphaereta pallipes (Say). Die verschiedenen Reaktionen waren im wesentlichen mit der Art der Wirtsnahrung korreliert. Daneben finden sich Hinweise, daß auch der Wirtsstamm, dessen Zuchttemperatur, das Alter von Parasit und Wirt und der Eiablageort des Parasiten die Reaktionen beeinflussen. Obgleich die Entwicklung von Parasitenembryonen bereits gehemmt war, ehe sie innerhalb des Wirtes von Melanin eingeschlossen wurden, so verhinderten doch die Parasiten-embryonen und/oder die Wirkung der vor der Eiablage abgegebenen Paralysierungstoxine die normale Entwicklung der Wirte aus sechs Fliegenstämmen. Eine beträchtliche Steigerung der Überlebensrate der Parasiten trat ein, wenn M. domestica-Larven in einem Gemisch chemisch genau definierter Nahrung gezogen wurden.
With 8 Figures in the Text
Formerly National Research Council Postdoctorate Fellow, Research Institute, Belleville, Ontario. 相似文献
89.
The effects of dietary exposure to 0.125% (w/w) p-chlorophenoxyacetic acid, 2,4-dichlorophenoxyacetic acid or 2,4,5-trichlorophenoxyacetic acid on the content of peroxisomes and levels of certain xenobiotic-metabolizing enzymes in mouse liver have been investigated. In agreement with the literature on rat liver 2,4-dichlorophenoxyacetic acid and 2,4,5-trichlorophenoxyacetic acid were found to cause extensive proliferation of peroxisomes (as judged by the total levels of "mitochondrial" protein, carnitine acetyltransferase, cyanide-insensitive palmitoyl-CoA oxidation and catalase) in mouse liver. On the other hand, exposure to p-chlorophenoxyacetic acid did not significantly affect any of these parameters. As with certain other peroxisome proliferators, 2,4-dichlorophenoxyacetic acid and 2,4,5-trichlorophenoxyacetic acid increased total cytochrome oxidase activity as well. In addition, dietary exposure to 2,4-dichlorophenoxyacetic acid and to 2,4,5-trichlorophenoxyacetic acid resulted in increases in the activities of cytosolic and microsomal epoxide hydrolases in mouse liver and generally less pronounced increases in the total cytosolic glutathione transferase activity and microsomal content of cytochrome P-450. In the case of cytochrome P-450, this process can be said to be a true induction (i.e. the amount of enzyme protein is increased), because the assay procedure for cytochrome P-450 measures holoenzyme amount. Immunoquantitation demonstrated that this was also the case for the changes in cytosolic epoxide hydrolase. The dramatic differences in proliferation of peroxisomes and induction of xenobiotic-metabolizing enzymes seen here with compounds differing relatively little in structure may indicate that a receptor mechanism of some kind is involved. 相似文献
90.
When mice were exposed to 1% 2-ethylhexanoic acid in the diet, cytosolic and microsomal epoxide hydrolase (EC 3.3.2.3) activities were increased maximally (2-2.5- and 0.5-1-fold, respectively) after 3 days. Immunochemical quantitation of these enzymes indicated that the process involved was a true induction in both cases. Maximal levels of peroxisome proliferation (as indicated by carnitine acetyltransferase activity) were obtained after 7 days of exposure. All three of these activities returned to control levels within 4 days after termination of the treatment. The liver somatic index was slightly increased after 4 days of administration of 1% 2-ethylhexanoic acid, but the protein contents of the "mitochondrial," microsomal, and cytosolic fractions were unaffected. The activity of peroxisomal palmitoyl-CoA beta-oxidation was increased 2-fold, whereas peroxisomal catalase activity was unaffected. Exposure to 2-ethylhexanoic acid also increased cytochrome oxidase activity, suggesting an effect on mitochondria. Other parameters of detoxication--i.e. total microsomal cytochrome P-450 content, cytosolic glutathione transferase activity toward 1-chloro-2,4-dinitrobenzene, and the "cytosolic" epoxide hydrolase activity localized in the "mitochondrial" fraction--were not affected by 4 days of treatment with 1% 2-ethylhexanoic acid. 相似文献