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Manara R Del Rizzo M Burlina AP Bordugo A Citton V Rodriguez-Pombo P Ugarte M Burlina AB 《Journal of inherited metabolic disease》2012,35(3):413-417
We describe a new neuroradiologic picture observed during metabolic decompensation in two maple syrup urine disease (MSUD)
patients that resembles Wernicke encephalopathy (WE). Clinical observations and the review of the literature regarding WE
and MSUD pathophysiology prompted us to hypothesize a pathogenic link between these two disorders. Based on these findings,
clinicians and neuroradiologists should be aware of MSUD as a possible predisposing factor of WE in children. 相似文献
83.
Novo G Rizzo M La Carruba S Caruso M Amoroso GR Balistreri CR Coppola G Evola G Caruso C Assennato P Novo S Mancuso D 《Angiology》2012,63(2):127-130
We assessed whether macrophage colony-stimulating factor (M-CSF) levels are associated with left ventricular systolic dysfunction (LVSD) in patients with acute myocardial infarction (AMI). We studied 56 patients with AMI (mean age: 67 ± 12 years) and identified those with clinical (Killip class >II) or echocardiographic signs (ejection fraction ≤45%) of LVSD. We evaluated the established cardiovascular risk factors and measured several cardiovascular biomarkers, including M-CSF. Serum M-CSF concentrations (pg/mL) were significantly increased in patients with both clinical and echocardiographic signs of LVSD (460 ± 265 vs 290 ± 210, P = .0103 and 493 ± 299 vs 287 ± 174, P = .0028, respectively). We found a significant inverse association between M-CSF and ejection fraction (r = -.351, P = .0079). Logistic regression analysis revealed that, among all evaluated clinical and biochemical parameters, the stronger predictor of LVSD was M-CSF (odds ratios 2.1, 95% confidence interval 1.1-2.9, P = .0168). This is the first study reporting plasma M-CSF levels as independent determinants of low LV ejection fraction and clinical LV dysfunction in patients with AMI. 相似文献
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Cozzi F Parisi G Ciprian L Bullo A Cardarelli S Rizzo M Sfriso P Punzi L 《Rheumatology international》2012,32(5):1219-1223
Gastric involvement appears quite commonly in systemic sclerosis (SSc). The aim of this study was to evaluate gastric wall
motility using ultrasonography, a noninvasive method able to track both filling and emptying of fundus and antrum. The study
was performed in 20 SSc patients and 20 healthy control subjects. Gastric filling and emptying were evaluated by transabdominal
ultrasonography, measuring changes in fundus and antral areas over a 1-h period after ingestion of a liquid bolus (500 ml
of mineral water). Areas of both gastric fundus and antrum at basal evaluation were found to be smaller in SSc patients than
in healthy controls. Gastric filling was significantly reduced after ingestion of liquid bolus. Gastric emptying was delayed
both in fundus and antrum. No significant differences of gastric wall motility have been observed in different subsets of
SSc patients. Our findings show that gastric dysmotility is frequent and severe in SSc patients, contributing to the gastrointestinal
disturbances which are very common in this disease. 相似文献
87.
Background/Study Context: Typical measures for assessing the useful field (UFOV) of view involve many components of attention. The objective of the current experiment was to examine differences in visual search efficiency for older individuals with and without UFOV impairment. Methods: The authors used a computerized screening instrument to assess the useful field of view and to characterize participants as having an impaired or normal UFOV. Participants also performed two visual search tasks, a feature search (e.g., search for a green target among red distractors) or a conjunction search (e.g., a green target with a gap on its left or right side among red distractors with gaps on the left or right and green distractors with gaps on the top or bottom). Results: Visual search performance did not differ between UFOV impaired and unimpaired individuals when searching for a basic feature. However, search efficiency was lower for impaired individuals than unimpaired individuals when searching for a conjunction of features. Conclusion: The results suggest that UFOV decline in normal aging is associated with conjunction search. This finding suggests that the underlying cause of UFOV decline may arise from an overall decline in attentional efficiency. Because the useful field of view is a reliable predictor of driving safety, the results suggest that decline in the everyday visual behavior of older adults might arise from attentional declines. 相似文献
88.
Maggio A Vitrano A Lucania G Capra M Cuccia L Gagliardotto F Pitrolo L Prossomariti L Filosa A Caruso V Gerardi C Campisi S Cianciulli P Rizzo M D'Ascola G Ciancio A Di Maggio R Calvaruso G Pantalone GR Rigano P 《American journal of hematology》2012,87(7):732-733
A multicenter randomized open-label long-term sequential deferiprone–deferoxamine (DFP-DFO) versus DFP alone trial (sequential DFP-DFO) performed in patients with thalassemia major (TM) was retrospectively reanalyzed to assess the variation in the left ventricular ejection fraction (LVEF) [1]. 相似文献
89.
Francesca Novara Ambra Rizzo Gloria Bedini Vita Girgenti Silvia Esposito Chiara Pantaleoni Roberto Ciccone Francesca L. Sciacca Valentina Achille Erika Della Mina Simone Gana Orsetta Zuffardi Margherita Estienne 《European journal of medical genetics》2013,56(5):260-265
5q14.3 deletions including the MEF2C gene have been identified to date using genomic arrays in patients with severe developmental delay or intellectual disability, stereotypic behavior, epilepsy, cerebral malformations and a facial gestalt not really distinctive though characterized by broad and/or high, bulging forehead, upslanting palpebral fissures, flat nasal root and bridge, small, upturned nose, hypotonic small mouth resulting in cupid bow/tented upper lip. MEF2C mutations have been also identified in patients with overlapping phenotype so that it is considered the gene responsible for the 5q14.3 deletion syndrome. To date, one single duplication including MEF2C has been reported in a patient with intellectual disability but its clinical significance remains uncertain also because of the large size of the imbalance. Here we present two further patients with 5q14.3 duplications including MEF2C. Their phenotype indeed suggest the pathogenic effect of the MEF2C duplication although other duplicated genes also brain expressed might contribute to the clinical features. In none of them a clear-cut syndrome can be identified. A comparison between MEF2C deleted/mutated and duplicated patients is also presented. 相似文献
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