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31.
49, XXXXY karyotype syndrome has been thought of as a variant of Klinefelter's syndrome. It has an incidence of between 1/85 000 to 1/100 000 live births. Typical clinical features include coarse faces, skeletal abnormalities, hypogenitalism and severe learning difficulties. Common ocular features include hypertelorism, epicanthic folds and up-slanting palpebral apertures. Here we report a case of high myopia and its successful correction leading to a positive personality change in one such patient. We advocate full ophthalmic examination, under anaesthesia if necessary, and a trial of refractive correction, even in children thought unlikely to tolerate such. 相似文献
32.
J De Reuck I Claeys S Martens Ph Vanwalleghem G Van Maele R Phlypo H Hallez 《European journal of neurology》2006,13(4):402-407
It is not well established whether seizures and epilepsy after an ischaemic stroke increase the disability of patients. Seventy-two patients with delayed seizures after a hemispheric infarct (37 with a single seizure and 35 with epilepsy) were included in the study. The modified Rankin scale was used to compare disability of the patients at 1 month after stroke and at 2 weeks after single or the last seizure, in case of epilepsy. The size of the X-ray hypoattenuation zone was compared on computed tomographic (CT) scans, performed in the weeks after the stroke and 1 week after single or repeated seizures. Lesion size was determined by superimposing the CT slices on digital cerebral vascular maps, on which the contours of the infarct area were delineated. The extent of the infarcts was expressed as the percentage fraction of the total surface area of the cerebral hemisphere. Groups with a single seizure and with epilepsy were mutually compared. Infarcts predominated in the parieto-temporal cortical regions. In the overall group the median Rankin score worsened significantly after seizures. The average size of the X-ray hypoattenuation zone was also significantly increased on the CT scans after the seizures, compared with those after stroke, without clear evidence of recent infarction. Mutual comparison of patients with a single seizure episode and of those with epilepsy showed only a trend of more severe disability and of increase in lesion size in the post-stroke epilepsy group. Delayed seizures and epilepsy after ischaemic stroke are accompanied by an increase in lesion size on CT and by worsening of the disability of the patients. This study does not allow to determine whether this is due to stroke recurrence or due to additional damage as a result of the seizures themselves. 相似文献
33.
David Mechanic 《Social science & medicine (1982)》1992,34(12):1345-1350
Health is a product of culture and social structure. The routine organization and constraints of everyday settings shape our health. Socio-economic status is of major importance in determining exposure to disease risk and in shaping health and illness behavior responses. Lay explanations of illness affect illness appraisal, self-treatment, decisions to seek care and changes in daily regimen. Somatization of psychosocial stressors is a common concern in primary care systems throughout the world, and doctors are commonly frustrated by such patients. Somatizing patients are often enmeshed in environments of great psychosocial difficulty or are depressed, and many cultural and social factors affect how depression is expressed. Although depression has devastating disabling effects on patients, it is often neither recognized by doctors nor treated. But doctor-patient relationships are often the context for appropriate management of such problems, and how they are handled affect the future trajectory of illness and disability. Doctors' responses are conditioned by their attitudes, training, interviewing and psychosocial skills, and organizational and financial factors. Patient flow is an important intervening variable affecting the management of psychosocial difficulties and depression. 相似文献
34.
Henrik Hein Lauridsen Jan Hartvigsen Claus Manniche Lars Korsholm Niels Grunnet-Nilsson 《European spine journal》2006,15(11):1717-1728
In studies evaluating the efficacy of clinical interventions, it is of paramount importance that the functional outcome measures are responsive to clinically relevant change. Knowledge thereof is in fact essential for the choice of instrument in clinical trials and for clinical decision-making. This article endeavours to investigate the sensitivity, specificity and clinically significant improvement (responsiveness) of the Danish version of the Oswestry disability index (ODI) in two back pain populations. Two hundred and thirty three patients with low back pain (LBP) and/or leg pain completed a questionnaire booklet at baseline and 8 weeks follow-up. Half of the patients were seen in the primary (PrS) and half in the secondary sectors (SeS) of the Danish Health Care System. The booklet contained the Danish version of the ODI, along with the Roland Morris Questionnaire, the LBP Rating Scale, the SF36 (physical function and bodily pain scales) and a global pain rating. At follow-up, a 7-point transition question (TQ) of patient perceived change and a numeric rating scale relating to the importance of the change were included. Responsiveness was operationalised using three strategies: change scores, standardised response means (SRM) and receiver operating characteristic (ROC) analyses. All methods revealed acceptable responsiveness of the ODI in the two patient populations which was comparable to the external instruments. SRM of the ODI change scores at 2 months follow-up was 1.0 for PrS patients and 0.3 for SeS (raw and percentage). A minimum clinically important change (MCID) from baseline score was established at 9 points (71%) for PrS patients and 8 points (27%) for SeS patients using ROC analyses. This was dependable on the baseline entry score with the MCID increasing with 5 points for every 10 points increase in the baseline score. We conclude that the Danish version of the ODI has comparable responsiveness to other commonly used functional status measures and is appropriate for use in low back pain patients receiving conservative care in both the primary and secondary sector. 相似文献
35.
B. Maes T. G. Broekman A. Doen & J. Nauts 《Journal of intellectual disability research : JIDR》2003,47(6):447-455
Background During the last decade, there has been a growing interest in outpatient support services for persons with intellectual disability (ID) and psychiatric and/or behavioural problems and their families. In this study, we explore the family burden that is associated with children or adults with ID and behavioural or psychiatric problems living at home. Method The research group consisted of 66 clients of In Casa, a project of outpatient treatment. Their average age is 18.97 years and their average IQ 55.37. The Reiss Screen for Maladaptive Behaviour (adults) or Reiss Scales for Children's Dual Diagnosis (children) and the Nijmegen Family Situation Questionnaire have been administered. Results About 62% of the children and 86% of the adults living at home and referred to In Casa have severe psychiatric or behavioural problems as measured by the Reiss scales. The dual diagnosis has a more negative impact on the family situation than the condition of ID only. Conclusion Parents consider the psychiatric or behavioural problems of their child to be an extra burden and feel it more difficult to raise and manage such a child. This impels them to change the situation and to call on the help of external services. Some methodological questions and the implications of the findings in terms of support needs are discussed. 相似文献
36.
The disability rating index: An instrument for the assessment of disability in clinical settings 总被引:3,自引:0,他引:3
Bo A. Salen Erik V. Spangfortke L.Nygren Rolf Nordemar 《Journal of clinical epidemiology》1994,47(12):1423-1435
The purpose of this study was to evaluate an instrument for assessment of physical disability, mainly intended for clinical settings, the Disability Rating Index (DRI). Healthy persons (n = 1092), both white and blue collar workers, and patients (n = 366) with different levels of physical capacity, were assessed. Most of the patients (n = 303) underwent rehabilitation programmes for neck/shoulder/low-back pain but some (n = 47) were arthritis patients waiting for hip or knee replacement surgery, or wheelchair patients with multiple sclerosis (n = 16). The reliability was investigated by test-retest studies, intra- and inter-rater and internal consistency studies. Five construct validity tests were carried out: a discrimination study; a converging validity test; a test for sensitivity to small alterations in health status; and two correlational validity tests. Correlation of the self-reported DRI to the actual performance in similar activities was carried out. Responsiveness was tested by correlation of the DRI before/after replacement surgery for arthritis. The test-retest correlations were 0.83–0.95 in the studies, including correlation of different versions. The intra- and inter-rater reproducibility was 0.98 and 0.99 respectively. The Kruskal-Wallis test in the discrimination study yielded p < 0.0001. More than 90% of the respondents completed the questionnaire correctly. Correlation of the DRI to the Functional Status Questionnaire was 0.46. The responsiveness was excellent, p = 0.0001. The DRI proved to be a robust, practical clinical and research instrument with good responsiveness and acceptability for assessment of disability caused by impairment of common motor functions. 相似文献
37.
Linda R. Mona M.A. Peter S. Gardos M.A. Robert C. Brown Ph.D. 《Sexuality and disability》1994,12(4):261-277
The sexual self-esteen of 43 women with mobility impairments was examined on the basis of age-of-onset and nature (fluctuating
versus stable health conditions) of disability. Based on past literature, it was hypothesized that women with earlier age-of-onset
disabilities would report lower positive levels of sexual self-esteem compared to women with later age-of-onset disabilities.
Subjects were acquired through two computer on-line services, two large urban universities, and nationally based disability-related
organizations. A hierarchical multiple regression indicated that as age-of-onset of disability increased (i.e. the disability
occurred later in life), positive sexual self-esteem decreased significantly. Future research should acquire participants
from residential institutions other than rehabilitation facilities and those who remain at home. The necessity of creating
psychological scales and tools applicable to this population is discussed. 相似文献
38.
儿童感觉统合失调及其影响因素的调查分析 总被引:17,自引:1,他引:16
目的 研究儿童感觉统合失调与学习障碍及环境因素的关系。方法 采用感觉统合评定量表和学习障碍(PRS)筛查量表,分别对755名学龄儿童进行检测、分析。结果 感觉统合严重失调率为13.25%;感觉统合正常与失调儿童的学习障碍有统计学差异(P<0.005);其中在LD儿童中感觉统合失调率占63.51%;感觉统合失调与母孕期的情绪、是否足月顺产、出生后的喂养方式、居住环境、孩子1岁内有无高热、家长对孩子的态度及期待等因素有关(P<0.05)。结论 儿童感觉统合失调与环境因素、学习障碍有一定的关系。 相似文献
39.
The aim of the study was to investigate if the stretch reflex of the soleus muscle was useful in quantifying upper motor neuron lesions. The soleus stretch reflex was recorded in 10 healthy subjects and 20 patients with active relapsing-remitting multiple sclerosis and correlated to the number of MRI lesions in cerebrum and clinical scores (expanded disability status scale and regional functional scoring system). The short latency stretch reflex was elicited by rotating the left ankle joint 4 degrees with a rise time in the interval of 40-640 ms. The amplitude of the stretch was larger in multiple sclerosis patients being 88.5 microV in patients and 12.8 microV in controls, P = 0.007. The sensitivity of the stretch reflex expressed as the slope of the best linear fit was increased in MS patients to 2.6 microVs/degree compared with 0.6 microVs/degree (0.1-2.2) in controls, P = 0.009. There was no correlation between amplitude of the stretch reflex and number of MRI lesions (r = -0.03). In conclusion, the soleus stretch reflex might be useful to quantify spasticity but is not useful in detecting dysfunction of upper motor neurons in MS. 相似文献
40.
Bruce F. Pennington Shelley D. Smith Lon R. Cardon Javier Gayán Valerie S. Knopik Richard K. Olson John C. DeFries 《American journal of medical genetics. Part A》2002,114(3):260-268
Comorbidity is pervasive among both adult and child psychiatric disorders; however, the etiological mechanisms underlying the majority of comorbidities are unknown. This study used genetic linkage analysis to assess the etiology of comorbidity between reading disability (RD) and attention‐deficit hyperactivity disorder (ADHD), two common childhood disorders that frequently co‐occur. Sibling pairs (N = 85) were ascertained initially because at least one individual in each pair exhibited a history of reading difficulties. Univariate linkage analyses in sibling pairs selected for ADHD from within this RD‐ascertained sample suggested that a quantitative trait locus (QTL) on chromosome 6p is a susceptibility locus for ADHD. Because this QTL is in the same region as a well‐replicated QTL for reading disability, subsequent bivariate analyses were conducted to test if this QTL contributed to comorbidity between the two disorders. Analyses of data from sib pairs selected for reading deficits revealed suggestive bivariate linkage for ADHD and three measures of reading difficulty, indicating that comorbidity between RD and ADHD may be due at least in part to pleiotropic effects of a QTL on chromosome 6p. © 2002 Wiley‐Liss, Inc. 相似文献