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Wolcott-Rallison syndrome is a rare autosomal recessive condition characterized by diabetes mellitus arising in early infancy and multiple epiphyseal dysplasia. To date, nine cases have been described in the world literature. We report an affected girl who died at the age of 4 years and on whom a full autopsy was performed. In addition to neonatal diabetes mellitus and epiphyseal dysplasia, this child had mental retardation and recurrent episodes of self-limiting hepatic failure. Autopsy revealed severe pancreatic hypoplasia and markedly abnormal pancreatic histology, while histology of the bone was consistent with epiphyseal dysplasia. There was laryngeal stenosis and pulmonary hypoplasia. The heart was enlarged with mitral valve dysplasia and stenosis, left atrial dilatation, left ventricular hypertrophy, and endocardial fibroelastosis. Examination of the central nervous system showed arrhinencephaly and cerebellar cortical dysplasia. The liver showed minor histological abnormalities but no features were present to account for the recurrent hepatic failure. In addition to Wolcott-Rallison syndrome this child had a deletion at 15q11-12 in 65 of her cells. 相似文献
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Karen J. Brackley Research Fellow † Margaret M. Ramsay Senior Registrar † Fiona Broughton Pipkin Professor Peter C. Rubin Professor † 《BJOG : an international journal of obstetrics and gynaecology》1998,105(1):68-77
Objective To describe changes in the maternal cerebral circulation and the external iliac arteries throughout pregnancy and the puerperium using the Laplace transform analysis of Doppler waveforms.
Design A prospective longitudinal study.
Setting Department of Obstetrics and Gynaecology, Nottingham University Hospital.
Sample A cohort of 17 healthy women studied every four weeks from early pregnancy until term and up to three months postpartum. Pre-conception data were available for 10 subjects.
Methods Doppler signals were recorded from the internal carotid, middle cerebral and external iliac arteries. The waveforms were analysed using two different techniques: standard indices (systolic: diastolic ratio, pulsatility and resistance indices) and Laplace transform analysis, an alternative method of waveform shape analysis which may provide additional haemodynamic information.
Results Vessel wall tone decreased at an early stage in pregnancy in the cerebral circulation and in the external iliac artery, but this rose again following delivery. The Laplace transform analysis techniques suggest dramatic eight-fold increases in downstream resistance within the external iliac artery in the second half of pregnancy. An increase in downstream resistance to flow also occurred in the internal carotid artery whereas more stable conditions were noted in the middle cerebral artery.
Conclusions Having a preliminary idea of the normal ranges for the Laplace transform analysis variables during pregnancy in a variety of maternal vessels, haemodynamic changes in pregnancies complicated by conditions, such as pre-eclampsia, can now be studied. 相似文献
Design A prospective longitudinal study.
Setting Department of Obstetrics and Gynaecology, Nottingham University Hospital.
Sample A cohort of 17 healthy women studied every four weeks from early pregnancy until term and up to three months postpartum. Pre-conception data were available for 10 subjects.
Methods Doppler signals were recorded from the internal carotid, middle cerebral and external iliac arteries. The waveforms were analysed using two different techniques: standard indices (systolic: diastolic ratio, pulsatility and resistance indices) and Laplace transform analysis, an alternative method of waveform shape analysis which may provide additional haemodynamic information.
Results Vessel wall tone decreased at an early stage in pregnancy in the cerebral circulation and in the external iliac artery, but this rose again following delivery. The Laplace transform analysis techniques suggest dramatic eight-fold increases in downstream resistance within the external iliac artery in the second half of pregnancy. An increase in downstream resistance to flow also occurred in the internal carotid artery whereas more stable conditions were noted in the middle cerebral artery.
Conclusions Having a preliminary idea of the normal ranges for the Laplace transform analysis variables during pregnancy in a variety of maternal vessels, haemodynamic changes in pregnancies complicated by conditions, such as pre-eclampsia, can now be studied. 相似文献
75.
Although relatively common in adults, leiomyoma of the esophagus is a rare disorder in children. A single case report describes the coexistence of both esophageal and bronchial leiomyoma in a child. The authors describe the diagnostic and treatment challenges encountered in a 2-year-old boy with coexisting inflammatory pseudotumor and esophageal leiomyoma presenting as massive atelectasis. 相似文献
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Theresa H M Keegan Sally L Glaser Christina A Clarke Margaret L Gulley Fiona E Craig Joseph A Digiuseppe Ronald F Dorfman Risa B Mann Richard F Ambinder 《Journal of clinical oncology》2005,23(30):7604-7613
PURPOSE: Epstein-Barr virus (EBV) in Hodgkin's lymphoma (HL) cells has been considered as a prognostic marker for this heterogeneous disease, but studies have yielded mixed findings, likely because of selected patient series and failure to acknowledge an effect of age on outcome. This study assessed survival after HL in a population-based cohort large enough to examine the joint effects of EBV with other factors including age, sex, and histologic subtype. PATIENTS AND METHODS: Included were 922 patients with classical HL diagnosed between mid-1988 and 1997 in the Greater San Francisco Bay Area, with archived biopsy specimens assayed for EBV with immunohistochemistry and in situ hybridization. Vital status was followed through December 30, 2003 (median follow-up time, 97 months). Overall and disease-specific survival were analyzed with the Kaplan-Meier method and Cox proportional hazards regression models. RESULTS: In children less than 15 years old, EBV presence was suggestively associated (P = .07) with favorable survival. In adults aged 15 to 44 years, EBV did not affect HL outcome, although a protective effect was suggested. In older adults (45 to 96 years), EBV presence nearly doubled the risk of overall and HL-specific mortality but only for patients with nodular sclerosis (NS) histologic subtype (hazard ratio for death = 2.5; 95% CI, 1.5 to 4.3). CONCLUSION: In HL, EBV tumor cell presence is associated with better survival in young patients and poorer survival in older patients with NS, independent of other factors. Variation in outcome by age and histology could indicate biologically distinct disease entities. Evidence that EBV is a meaningful prognostic marker may have therapeutic relevance. 相似文献
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Reported parameters of the MTT assay vary widely, and reflect a need to optimise the assay for different cell types. The MTT assay conditions for the human B-lymphocyte-derived cell line WIL2NS were optimised for MTT incubation and formazan development. The optimised MTT assay was validated by examining the effects of the acaride amitraz on WIL2NS. In pH-buffered media in the absence of cells, MTT formed formazan spontaneously, and absorbance was proportional to both the initial concentration of MTT and the time of incubation at 37 °C. One milligram per millilitre MTT was toxic to WIL2NS cells, but the accuracy of the standard curve was reduced when only 0.2 mg/ml MTT was used. Twenty percent SDS in 0.2 M HCl was preferable to DMSO as a solvent for formazan. Exposure to 0.035% amitraz resulted in a significant reduction in WIL2NS cell numbers after only 2 h of exposure. It was concluded that 0.035% of amitraz has the potential to adversely affect lymphocytes in the systemic blood system in humans, and that an optimised MTT assay was obtained by incubating WIL2NS cells with 0.45 mg/ml MTT for 17 h, followed by addition of acidified SDS for 1 h. 相似文献
80.
Miranda Leontowitsch Fiona Stevenson Irwin Nazareth Catherine Duggan 《The International journal of pharmacy practice》2005,13(4):273-280
Objectives To assess the feasibility and acceptability of concordance in pharmacy practice through examination of communication between customers and pharmacists in two community pharmacies in consultations for over‐the‐counter medicines. Method A qualitative pilot study involving data drawn from six sources: audiotaped training session with all the pharmacists involved, observational field work in the pharmacies, audiotaped consultations with pharmacists and customers, debriefing interviews with pharmacists after the consultation, and semi‐structured interviews with customers a few days after their consultation. Setting Two community pharmacies that concentrate their services on medicine advice and dispensing, one in a deprived inner‐city area, the other in a more affluent suburban area of London. Key findings The pharmacists developed a personal understanding of concordance which informed their practice. Customers reported a high level of satisfaction with services they received from the respective pharmacists. Their accounts of the consultations verified the pharmacists' patient‐centredness in their day‐to‐day practice. Conclusion The implementation of a concordance model was possible through the development of a personalised, patient‐centred model which drew on the model of concordance but was adapted in accordance with both structural constraints as well as the personal style of the pharmacists involved. 相似文献