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101.
An unusual combination of congenital cardiac defects, complicated by bacterial endocarditis is presented. The endocarditis extended from the bicuspid aortic valve to a congenitally thin aortic vestibule. The latter ulcerated and finally perforated with consequent seepage of blood into the postaortic region. The hematocele thus produced ruptured at a weakened point. Massive hemopericardium and death resulted. 相似文献
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Shahar Y Young O Shalom E Galperin M Mayaffit A Moskovitch R Hessing A 《Journal of biomedical informatics》2004,37(5):325-344
Clinical guidelines are a major tool in improving the quality of medical care. However, most guidelines are in free text, not in a formal, executable format, and are not easily accessible to clinicians at the point of care. We introduce a Web-based, modular, distributed architecture, the Digital Electronic Guideline Library (DeGeL), which facilitates gradual conversion of clinical guidelines from text to a formal representation in chosen target guideline ontology. The architecture supports guideline classification, semantic markup, context-sensitive search, browsing, run-time application, and retrospective quality assessment. The DeGeL hybrid meta-ontology includes elements common to all guideline ontologies, such as semantic classification and domain knowledge; it also includes four content-representation formats: free text, semi-structured text, semi-formal representation, and a formal representation. These formats support increasingly sophisticated computational tasks. The DeGeL tools for support of guideline-based care operate, at some level, on all guideline ontologies. We have demonstrated the feasibility of the architecture and the tools for several guideline ontologies, including Asbru and GEM. 相似文献
105.
Most people with severe and persistent psychiatric disorders have significant cognitive deficits. Both schizophrenia and affective disorders with psychosis are associated with problems in attention, memory, and executive functioning. These deficits are predictive of lower work status, impairments in social skills, and poorer response to psychosocial skills training. Cognitive impairment makes it difficult for individuals to benefit from focused skills interventions that they are offered. This article describes behavioral treatments available to address cognitive dysfunction in individuals with psychiatric disorders. The evidence for efficacy is reviewed and recommendations are made for ways to begin addressing cognitive impairment in mainstream psychiatric practice. 相似文献
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OBJECTIVE: The relationship between psychopathology and cognitive functioning in schizophrenia is of interest, both for an understanding of the nature of the disease, and for comprehensive treatment planning. The aim of this study was to investigate how psychiatric symptoms affect, and are affected by, cognitive remediation. METHOD: Fifty-four psychiatric inpatients received either cognitive remediation exercises (remediation group) or no cognitive intervention (control group). The subjects' scores on tests of cognition and on the Positive and Negative Symptoms Scale (PANSS) were measured before, after the 10 session treatment, and again 4 weeks post treatment. RESULTS: Only the remediation group showed significant and persistent improvement on all three PANSS Subscales as well as on the Positive Symptoms and Depression Factors. There were no significant between-group differences on any PANSS pre/posttreatment change scores. Baseline measures of psychopathology did not correlate meaningfully with amount of change made on cognitive measures after rehabilitation. CONCLUSIONS: A brief 10-session course of cognitive remediation is sufficient to benefit cognition and has some positive effects on psychopathology as measured by the PANSS, but does not add significantly to the effects of standard psychiatric treatment on psychopathology. Furthermore, psychiatric symptom profile is not predictive of the degree to which cognitive symptoms respond to cognitive remediation. The differential impact of cognitive remediation on cognition and psychopathology may imply that psychopathology and cognitive functioning follow fairly independent treatment courses. 相似文献
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Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract 总被引:1,自引:0,他引:1
Cohen D Bar-Yosef U Levy J Gradstein L Belfair N Ofir R Joshua S Lifshitz T Carmi R Birk OS 《Investigative ophthalmology & visual science》2007,48(5):2208-2213
PURPOSE: Some 30% of cases of congenital cataract are genetic in origin, usually transmitted as an autosomal dominant trait. The molecular defects underlying some of these autosomal dominant cases have been identified and were demonstrated to be mostly mutations in crystallin genes. The autosomal recessive form of the disease is less frequent. To date, only four genes and three loci have been associated with autosomal recessive congenital cataract. Two extended unrelated consanguineous inbred Bedouin families from southern Israel presenting with autosomal recessive congenital nuclear cataract were studied. METHODS: Assuming a founder effect, homozygosity testing was performed using polymorphic microsatellite markers adjacent to each of 32 candidate genes. RESULTS: A locus on chromosome 22 surrounding marker D22S1167 demonstrated homozygosity only in affected individuals (lod score > 6.57 at theta = 0 for D22S1167). Two crystallin genes (CRYBB1 and CRYBA4) located within 0.1 cM on each side of this marker were sequenced. No mutations were found in CRYBA4. However, an identical homozygous delG168 mutation in exon 2 of CRYBB1 was discovered in affected individuals of both families, generating a frameshift leading to a missense protein sequence at amino acid 57 and truncation at amino acid 107 of the 252-amino-acid CRYBB1 protein. Denaturing [d]HPLC analysis of 100 Bedouin individuals unrelated to the affected families demonstrated no CRYBB1 mutations. CONCLUSIONS: CRYBB1 mutations have been shown to underlie autosomal dominant congenital cataract. The current study showed that a different mutation in the same gene causes an autosomal recessive form of the disease. 相似文献
109.
Studies of object-based attention (OBA) have suggested that attentional selection is intimately associated with discrete objects. However, the relationship of this association to the basic visual features ('textons') which guide the segregation of visual scenes into 'objects' remains largely unexplored. Here we study this hypothesized relationship for one of the most conspicuous features of early vision: orientation. To do so we examine how attention spreads through uniform (one 'object') orientation-defined textures (ODTs), and across texture-defined boundaries in discontinuous (two 'objects') ODTs. Using the divided-attention paradigm we find that visual events that are known to trigger orientation-based texture segregation, namely perceptual boundaries defined by high orientation and/or curvature gradients, also induce a significant cost on attentional selection. At the same time we show that no effect is incurred by the absolute value of the textons, i.e., by the general direction (or, the 'grain') of the texture-in conflict with previous findings in the OBA literature. Collectively these experiments begin to reveal the link between object-based attention and texton-based segregation, a link which also offers important cross-disciplinary methodological advantages. 相似文献
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