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11.
Yvette van Ierland Gijs Elshout Marjolein Y Berger Yvonne Vergouwe Marcel de Wilde Johan van der Lei Henri?tte A Mol Rianne Oostenbrink 《The British journal of general practice》2015,65(633):e224-e233
BackgroundClinical prediction rules (CPRs) to identify children with serious infections lack validation in low-prevalence populations, which hampers their implementation in primary care practice.AimTo evaluate the diagnostic value of published CPRs for febrile children in primary care.MethodAlarm signs of serious infection and clinical management were extracted from routine clinical practice data and manually recoded with a structured electronic data-entry program. Eight CPRs were selected from literature. CPR-variables were matched with alarm signs and CPRs were applied to the GPC-population. ‘Referral to emergency department (ED)’ was used as a proxy outcome measure for ‘serious infection’. CPR performance was assessed by calibration analyses, sensitivity, specificity, and area under the ROC-curve (ROC-area).ResultsA total of 9794 GPC-contacts were eligible, 54% male, median age 2.3 years (interquartile range 1.0–4.6 years) and 8.1% referred to ED. Frequencies of CPR-variables varied from 0.5% (cyanosis, drowsy) to 25% (temperature ≥40°C). Alarm signs frequently included in CPRs were ‘ill appearance’, ‘inconsolable’, and ‘abnormal circulatory or respiratory signs’. The height of the CPR’s predicted risks generally corresponded with being (or not being) referred to the ED in practice. However, calibration-slopes indicated that three CPRs underestimated the risk of serious infection in the GPC-population. Sensitivities ranged from 42% to 54%, specificities from 68% to 89%. ROC-areas ranged from 0.52 to 0.81, with best performance of CPRs for children aged <3 months.ConclusionPublished CPRs performed moderately well in the primary out-of-hours care population. Advice is given on how to improve translation of CPRs to primary care practice. 相似文献
12.
Gijs Elshout Marijke Kool Arthur M Bohnen Bart W Koes Henri?tte A Moll Marjolein Y Berger 《The British journal of general practice》2015,65(638):e578-e584
Background
Fever in children in primary care is commonly caused by benign infections, but often worries parents. Information about the duration of fever and its predictors may help in reassuring parents, leading to diminished consultation of health care.Aim
To determine which signs and symptoms predict a prolonged duration of fever in febrile children in primary care and evaluate whether C-reactive protein (CRP) measurement has an additive predictive value for these symptoms.Design and setting
A prospective cohort study at a GPs’ cooperative (GPC) out-of-hours service.Method
Children (aged 3 months to 6 years) presenting with fever as stated by the parents were included. Exclusion criteria were no communication in Dutch possible, previous enrolment in the study within 2 weeks, referral to the hospital directly after visiting the GPC, or no informed consent. The main outcome measure was prolonged duration of fever (>3 days) after initial contact.Results
Four-hundred and eighty children were analysed, and the overall risk of prolonged duration was 13% (63/480). Multivariate analysis combined model of patient history and physical examination showed that ‘sore throat’ (OR 2.8; 95% CI = 1.30 to 6.01) and ‘lymph nodes palpable’ (OR 1.87; 95% CI = 1.01 to 3.49) are predictive for prolonged duration of fever. The discriminative value of the model was low (AUC 0.64). CRP had no additive value in the prediction of prolonged duration of fever (OR 1.00; 95% CI = 0.99 to 1.01).Conclusion
The derived prediction model indicates that only a few signs and symptoms are related to prolonged duration of fever. CRP has no additional value in this model. Overall, because the discriminative value of the model was low, the duration of fever cannot be accurately predicted. 相似文献13.
Charlotte W Ockeloen Marjolein H Willemsen Sonja de Munnik Bregje WM van Bon Nicole de Leeuw Aad Verrips Sarina G Kant Elizabeth A Jones Han G Brunner Rosa LE van Loon Eric EJ Smeets Mieke M van Haelst Gijs van Haaften Ann Nordgren Helena Malmgren Giedre Grigelioniene Sascha Vermeer Pedro Louro Lina Ramos Thomas JJ Maal Celeste C van Heumen Helger G Yntema Carine EL Carels Tjitske Kleefstra 《European journal of human genetics : EJHG》2015,23(9):1270-1185
Loss-of-function variants in ANKRD11 were identified as the cause of KBG syndrome, an autosomal dominant syndrome with specific dental, neurobehavioural, craniofacial and skeletal anomalies. We present the largest cohort of KBG syndrome cases confirmed by ANKRD11 variants reported so far, consisting of 20 patients from 13 families. Sixteen patients were molecularly diagnosed by Sanger sequencing of ANKRD11, one familial case and three sporadic patients were diagnosed through whole-exome sequencing and one patient was identified through genomewide array analysis. All patients were evaluated by a clinical geneticist. Detailed orofacial phenotyping, including orthodontic evaluation, intra-oral photographs and orthopantomograms, was performed in 10 patients and revealed besides the hallmark feature of macrodontia of central upper incisors, several additional dental anomalies as oligodontia, talon cusps and macrodontia of other teeth. Three-dimensional (3D) stereophotogrammetry was performed in 14 patients and 3D analysis of patients compared with controls showed consistent facial dysmorphisms comprising a bulbous nasal tip, upturned nose with a broad base and a round or triangular face. Many patients exhibited neurobehavioural problems, such as autism spectrum disorder or hyperactivity. One-third of patients presented with (conductive) hearing loss. Congenital heart defects, velopharyngeal insufficiency and hip anomalies were less frequent. On the basis of our observations, we recommend cardiac assessment in children and regular hearing tests in all individuals with a molecular diagnosis of KBG syndrome. As ANKRD11 is a relatively common gene in which sequence variants have been identified in individuals with neurodevelopmental disorders, it seems an important contributor to the aetiology of both sporadic and familial cases. 相似文献
14.
Stenting for restenotic lesions with the BARD XT stent 总被引:1,自引:0,他引:1
Rahel BM Suttorp MJ Te Riele HA Bal ET Ernst SM Mast EG Ten Berg JM Kelder JC Plokker HW 《Journal of interventional cardiology》2003,16(3):227-230
BACKGROUND: Conventional PTCA for the treatment of restenotic lesions is associated with a high rate of recurrence (30-50%). Primary stenting decreases the restenosis rate at long-term follow-up. METHODS: One-hundred consecutive patients with restenosis received a Bard XT stent. Follow-up angiography was performed after 6 months. Angiograms were compared by means of computed quantitative analysis. RESULTS: The mean pretreatment reference diameter was 2.88 +/- 0.51 mm. The mean minimal luminal diameter (MLD) increased from 1.09 +/- 0.57 mm to 2.70 +/- 0.44 mm. The percent diameter stenosis decreased from 66 +/- 13% to 15 +/- 10%. The procedural success rate was 99%. At 6 month follow-up repeat angiography was performed in 86 patients. The mean MLD was 1.74 +/- 0.67 mm with a mean diameter stenosis of 41 +/- 20%. Residual anginal complaints were reported in 29% of patients. In-stent restenosis (defined as diameter stenosis of more than 50%) occurred in 18% of the patients. CONCLUSION: Placement of the Bard XT stent in restenotic lesions is feasible, has an excellent short term outcome and yields a favorable result at 6 month follow-up angiography. 相似文献
15.
Dunkelgrun M Welten GM Goei D Winkel TA Schouten O van Domburg RT van Gestel YR Flu WJ Hoeks SE Bax JJ Poldermans D 《The American journal of cardiology》2008,102(7):797-801
The role of uric acid as an independent marker of cardiovascular risk is unclear. Therefore, our aim was to assess the independent contribution of preoperative serum uric acid levels to the risk of 30-day and late mortality and major adverse cardiac event (MACE) in patients scheduled for open vascular surgery. In total, 936 patients (76% male, age 68 +/- 11 years) were enrolled. Hyperuricemia was defined as serum uric acid >0.42 mmol/l for men and >0.36 mmol/l for women, as defined by large epidemiological studies. Outcome measures were 30-day and late mortality and MACE (cardiac death or myocardial infarction). Multivariable logistic and Cox regression analysis were used, adjusting for age, gender, and all cardiac risk factors. Data are presented as odds ratios or hazard ratios, with 95% confidence intervals. Hyperuricemia was present in 299 patients (32%). The presence of hyperuricemia was associated with heart failure, chronic kidney disease, and the use of diuretics. Perioperatively, 46 patients (5%) died and 61 patients (7%) experienced a MACE. Mean follow-up was 3.7 years (range: 0 to 17 years). During follow-up, 282 patients (30%) died and 170 patients (18%) experienced a MACE. After adjustment for all clinical risk factors, the presence of hyperuricemia was not significantly associated with an increased risk of 30-day mortality or MACE, odds ratios of 1.5 (0.8 to 2.8) and 1.7 (0.9 to 3.0), respectively. However, the presence of hyperuricemia was associated with an increased risk of late mortality and MACE, with hazard ratios of 1.4 (1.1 to 1.7) and 1.7 (1.3 to 2.3), respectively. In conclusion, the presence of preoperative hyperuricemia in vascular patients is a significant predictor of late mortality and MACE. 相似文献
16.
Wijnand Laan Nienke Bleijenberg Irene Drubbel Mattijs E. Numans Niek J. de Wit Marieke J. Schuurmans 《Maturitas》2013
Objectives
With increasing age the levels of activities of daily living (ADL) deteriorate. In this study we aimed to investigate which demographic characteristics and disorders are associated with ADL disabilities in multi-morbid older people.Study design
We performed a cross-sectional study with baseline patient data from a large Dutch trial in independently living multi-morbid older people combined with the reimbursed healthcare data for the same subjects.Main outcome measures
The primary outcome of our study was the level of independence of activities of daily living (ADL) as assessed with the Modified Katz Activities of Daily Living (KATZ-15) scale.Results
In our study we were able to include 1187 persons (63.0% female) for whom both questionnaire data and reimbursed healthcare data was available. In total, 59% had a Katz-15 score of 1 or higher. The strongest associations with ADL disabilities in women were psychiatric disorders, with prevalence rate (PR) estimates of 1.37 (95% confidence interval (CI): 1.17–1.60) and transient ischaemic attacks and cerebrovasculair accidents in men, with PR estimates of 1.94 (95% CI: 1.41–2.66). Although univariate analysis seemed to also reveal associations with socio-demographic factors such as living together with a partner or the socio-economic status, these factors were not independently associated with ADL disabilities.Conclusions
In this cross-sectional study we found that 71% of the multi-morbid female elderly had a sub-optimal level of activities of daily living, as assessed with the Katz-15 scale. The results of our study show that multiple disorders are associated with ADL disabilities in multi-morbid older men and women. We found socio-demographic characteristics not to be independently associated ADL disabilities. 相似文献17.
18.
Guido J. Breedveld Gijs W.E. Santen Emmelien Aten Dirk J. Lefeber Jorrit I. Hoff Esther Brusse Frans W. Verheijen Rob M. Verdijk Marjolein Kriek Ben Oostra Martijn H. Breuning Monique Losekoot Johan T. den Dunnen Bart P. van de Warrenburg Anneke J.A. Maat‐Kievit 《Human mutation》2013,34(5):706-713
Spinocerebellar ataxias are phenotypically, neuropathologically, and genetically heterogeneous. The locus of autosomal recessive spinocerebellar ataxia type 7 (SCAR7) was previously linked to chromosome band 11p15. We have identified TPP1 as the causative gene for SCAR7 by exome sequencing. A missense and a splice site variant in TPP1, cosegregating with the disease, were found in a previously described SCAR7 family and also in another patient with a SCAR7 phenotype. TPP1, encoding the tripeptidyl‐peptidase 1 enzyme, is known as the causative gene for late infantile neuronal ceroid lipofuscinosis disease 2 (CLN2 disease). CLN2 disease is characterized by epilepsy, loss of vision, ataxia, and a rapidly progressive course, leading to early death. SCAR7 patients showed ataxia and low activity of tripeptidyl‐peptidase 1, but no ophthalmologic abnormalities or epilepsy. Also, the slowly progressive evolution of the disease until old age and absence of ultra structural curvilinear profiles is different from the known CLN2 phenotypes. Our findings now expand the phenotypes related to TPP1‐variants to SCAR7. In spite of the limited sample size and measurements, a putative genotype–phenotype correlation may be drawn: we hypothesize that loss of function variants abolishing TPP1 enzyme activity lead to CLN2 disease, whereas variants that diminish TPP1 enzyme activity lead to SCAR7. 相似文献
19.
Gijs I. T. Iordens Dennis Den Hartog Esther M. M. Van Lieshout Wim E. Tuinebreijer Jeroen De Haan Peter Patka Michael H. J. Verhofstad Niels W. L. Schep Dutch Elbow Collaborative 《Clinical orthopaedics and related research》2015,473(4):1451-1461
BackgroundAfter a complex dislocation, some elbows remain unstable after closed reduction or fracture treatment. Function after treatment with a hinged external fixator theoretically allows collateral ligaments to heal without surgical reconstruction. However, there is a lack of prospective studies that assess functional outcome, pain, and ROM.Questions/purposesWe asked: (1) In complex elbow fracture-dislocations, does treatment with a hinged external fixator result in reduction of disability and pain, and in improvement in ROM, function, and quality of life? (2) Does delayed treatment (7 days or later) have a negative effect on ROM after 1 year? (3) What are the complications seen after external fixator treatment?MethodsDuring a 2-year period, 11 centers recruited 27 patients 18 years or older who were included and evaluated at 2 and 6 weeks and at 3, 6, and 12 months after surgery as part of this prospective case series. During the study period, the participating centers agreed on general indications for use of the hinged external fixator, which included persistent instability after closed reduction alone or closed reduction combined with surgical treatment of associated fracture(s), when indicated. Functional outcome was evaluated using the Quick Disabilities of the Arm, Shoulder and Hand (QuickDASH; primary outcome) score, the Mayo Elbow Performance Index (MEPI), the Oxford Elbow Score, and the level of pain (VAS). ROM, adverse events, secondary interventions, and radiographs also were evaluated. A total of 26 of the 27 patients (96%) were available for followup at 1 year.ResultsAll functional and pain scores improved. The median QuickDASH score decreased from 30 (25th–75th percentiles [P25–P75], 23–40) at 6 weeks to 7 (P25–P75, 2–12) at 1 year with a median difference of −25 (p < 0.001). The median MEPI score increased from 80 (P25–P75, 64–85) at 6 weeks to 100 (P25–P75, 85–100) at 1 year with a median difference of 15 (p < 0.001). The median Oxford Elbow Score increased from 60 (P25–P75, 44–68) at 6 weeks to 90 (P25–P75, 73–96) at 1 year with a median difference of 29 (p < 0.001). The median VAS decreased from 2.8 (P25–P75, 1.0–5.0) at 2 weeks to 0.5 (P25–P75, 0.0–1.9) at 1 year with a median difference of −2.1 (p = 0.001). ROM also improved. The median flexion-extension arc improved from 50° (P25–P75, 33°–80°) at 2 weeks to 118° (P25–P75, 105°–138°) at 1 year with a median difference of 63° (p < 0.001). Similarly, the median pronation-supination arc improved from 90° (P25–P75, 63°–124°) to 160° (P25–P75, 138°–170°) with a median difference of 75° (p < 0.001). At 1 year, the median residual deficit compared with the uninjured side was 30° (P25–P75, 5°–35°) for the flexion-extension arc, and 3° (P25–P75, 0°–25°) for the pronation-supination arc. Ten patients (37%) experienced a fixator-related complication, and seven patients required secondary surgery (26%). One patient reported recurrent instability.ConclusionsA hinged external elbow fixator provides enough stability to start early mobilization after an acute complex elbow dislocation and residual instability. This was reflected in good functional outcome scores and only slight disability despite a relatively high complication rate.
Level of Evidence
Level IV, therapeutic study. 相似文献20.