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71.
Association of D/D translocations with fetal wastage and aneuploidy. A report of four families.
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P M Fernhoff D N Singh J Hanson S Trusler C R Dumont A T Chen 《Journal of medical genetics》1976,13(5):389-393
Four families are described with a t(13q14q) segregating. Two of them were identified through index cases with Down's syndrome; their karotypes revealed the unusual 46,XY, -13, -14, +t(13q14q), +21. The other two families were identified through a chromosomal study of parents with repeated spontaneous abortions. Analysis of data on 3 of these 4 families and on 7 other from the published reports showed no evidence of increased fetal wastage among 13/14 carriers. However, the risk of producing offspring with various types of aneuploidy may be greater among carriers than among persons with a normal chromosome pattern. Qualitative and quantitative differences in D/D translocations may account for the observed variation in clinical findings. These differences add to the problem of determining genetic risks from an analysis of grouped data. 相似文献
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We have studied five males with B?rjeson-Forssman-Lehmann syndrome (BFLS) from two unrelated families. They had a characteristic facial appearance with prominent supraorbital ridges, deep-set eyes, ptosis, and large ears, as well as obesity, severe mental retardation, hypotonia, and hypogonadism. Ophthalmologic, EEG, and skeletal abnormalities were also present. The findings in several presumed or possible heterozygous women were evaluated and suggested a wide range of phenotypic effects varying between apparent normality to mild or moderately evident BFLS manifestations. The observed pattern of occurrence of the BFLS in our two families provides strong support for X-linked inheritance. In clinically normal female relatives at risk for being carriers of BFLS, we have been unsuccessful in identifying a reliable screening test. The condition in our and previously reported patients was contrasted with other malformation syndromes and our findings support the conclusion that BFLS is a distinct and clinically identifiable disorder. 相似文献
75.
Y S Yeh Y Iriyama Y Matsuzawa S R Hanson H Yasuda 《Journal of biomedical materials research》1988,22(9):795-818
Tubular blood-contacting polymeric materials were modified by plasma polymerization and evaluated in the baboon with respect to their capacity to induce both acute and chronic arterial thrombosis. Polymer surface composition was determined by electron spectroscopy for chemical analysis. Steady-state arterial thromboembolism was initiated by introducing tubular segments into chronic arteriovenous shunts. Rates of platelet destruction induced by the test materials were calculated from 111In-platelet survival measurements. Nine plasma polymers based on tetrafluoroethylene, hexafluoroethane, hexafluoroethane/H2, and methane, when deposited on silicone rubber, consumed platelets at rates ranging from 1.1-5.6 x 10(8) platelets/cm2-day. Since these values were near the lower detection limit for this test system, the plasma polymers were considered relatively nonthrombogenic. Acute thrombus formation was initiated by inserting expanded Teflon (Gore-Tex PTFE) vascular grafts into the shunt system. 111In-platelet deposition was measured by scintillation camera imaging over a 1-h exposure period. Standard PTFE grafts (10 cm x 4 mm i.d.) accumulated approximately 1 x 10(10) platelets over this interval. While modification of PTFE grafts with a plasma polymer based on hexafluoroethane/H2 did not alter graft surface morphology, platelet deposition was reduced by 87% as compared to the controls (p less than 0.001). We conclude that both the surface chemistry and texture of prosthetic materials influence thrombogenesis. The method of plasma polymerization may be useful for assessing the importance of these variables independently and, perhaps, for minimizing certain adverse blood-material interactions. 相似文献
76.
Bronchocentric granulomatosis: a complication of allergic bronchopulmonary aspergillosis. 总被引:1,自引:0,他引:1
G Hanson N Flor I Wells H Novey S Galant 《The Journal of allergy and clinical immunology》1977,59(1):83-90
Hypersensitivity to the fungal antigens of Aspergillus fumigatus may result in a spectrum of immune injury collectively known as allergic bronchopulmonary aspergillosis (ABPA). This report describes a 14-yr-old boy who presented clinical findings consistent with ABPA,including a history of asthma, blood eosinophilia, serum precipitins, and IgE antibodies to Aspergillus fumigatus. Sputum Aspergillus, pulmonary infiltrates, and dual types I and III skin reactions to Aspergillus fumigatus were observed also. Pathology of the resected right upper lobe revealed severe bronchial destruction with the findings of bronchocentric granulomatosis. Noninvasive septate fungal hyphae compatible with Aspergillus were identified. Cultures from sputum and surgical specimens grew Aspergillus and Mycobacterium intracellulare avium. The PPD-B (purified protein derivative-Batty) intradermal skin test produced a 6 mm induration (PPD-S was negative). The patient's condition has been well controlled with prednisone and several antituberculous drugs. In addition, inflammatory and immunologic parameters have begun to return to normal. The relationship between ABa and the atypical mycobacterial infection is not clear. The association of ABPA with the severe bronchial destruction seen in bronchocentric granulomatosis is emphasized to alert physicans to this serious sequelae of ABa seen in the asthmatic. 相似文献
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Ray L. Hanson Alan R. Dahl Simon J. Rothenberg Janet M. Benson Antone L. Brooks John S. Dutcher 《Archives of environmental contamination and toxicology》1985,14(3):289-297
Volatile components from diesel exhaust particles and coal gasifier process gas condensate were vacuum fractionated by cryogenic distillation and identified by infrared spectroscopy and gas chromatography/mass spectrometry. The vacuum distillation line consisted of a sample flask and nine traps cooled from 0°C to ?196°C in approximately 20°C steps. The pressure in the vacuum line of about 10?2 Torr was maintained with a vacuum pump. Separated compounds were identified by comparison to reference infrared spectra and confirmed by comparison with standards when practical. Volatile compounds identified from the diesel exhaust particle sample included NOx, carbon dioxide, sulfur dioxide, alkanes, aldehydes, and one and two ring aromatic hydrocarbons. Volatile compounds identified in process gas condensate from a coal gasifier were ammonia, carbonyl sulfide, carbon dioxide, C3-C7 hydrocarbons, one and two ring aromatic hydrocarbons, and phenols. Volatile components collected at either 0° or ?24°C were evaluated to determine their genotoxicity using the Chinese hamster ovary/hypoxanthine-guanine phosphoribosyltransferase (CHO/HGPRT) assay. Neither the gasifier condensate nor diesel particle samples produced mutations at the HGPRT locus. The diesel samples were not cytotoxic at the concentrations tested (100 μg/ml) but the gasifier samples resulted in 50% cell killing at concentrations between 25 and 100 μg/ml depending on the temperature of collection and the test conditions. Vacuum desorption with cryogenic distillation has provided a means to separate the volatile components in complex environmental samples to allow chemical and biological characterization of these components. 相似文献
80.
Hanson BG 《Sociology of health & illness》1985,7(1):21-35
This paper examines the dynamics of the process of negotiation in a nursing home by focusing on the process of gaining advantage. The concepts of primary and secondary advantage are introduced in order to allow comparison and organization of the data. In the course of examining what rewards are possible and how they are achieved, we are able to see that the impetus to treat and the control of treatment action often lies with the staff of the home rather than the physician, that officially imposed definitions may be unfavourable to the persons they are imposed upon and that the process of deciding on everyday activities is often complex. 相似文献