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The patient had chronic incapacitating headaches for a period of eight years. Neurologic tests ruling out organic causes such as tumors and analysis of diet, allergies, stress levels, and chronic infections left the patient and physicians without an explanation. The headaches did not fit the patterns of common or classic migraines. The patient's energy level had significantly decreased during this same time period, and she had frequently become short of breath. Diagnosis of underlying pathology occurred when efforts were focused on explaining respiratory conditions. The patient had an oxygen saturation of 77% and a pulse of 98, following a brief walk around the building. Further testing by a pulmonary specialist confirmed diagnosis of emphysema secondary to a deficiency of Alpha-1 Antitrypsin (AAT). Background materials supporting this case history include: a model for AAT function, genetics of AAT deficiency, pathophysiology of both liver and pulmonary diseases, and a summary of treatment options and prognosis for AAT deficient patients.  相似文献   
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Transcatheter atrial septal defect closure is becoming more commonplace as it has been demonstrated to be safe, efficacious and associated with low morbidity. Pre-procedural assessment of individuals has primarily relied upon transesophageal echocardiography. We present four individuals who underwent both transesophageal echocardiography as well as cardiac multidetector computed tomography. In all four cases, multidetector computed tomography added incremental information above the transesophageal echocardiogram. Multidetector computed tomography may play an essential role in individuals with atrial septal defects undergoing percutaneous transcatheter closure.  相似文献   
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Abstract Objectives. Bronchial artery revascularization in lung transplantation is disputed. This study examined the physiological consequences of porcine bronchial transsection and reanastomosis with and without bronchial artery blood supply with relation to lung transplantation. Design. Translational, controlled animal study. Twelve pigs were operated through a left lateral thoracotomy. The left bronchus was transsected and reanastomosed. In the control group (n =?6), the bronchial arteries were preserved and in the study group (n =?6) they were severed. Bronchial mucosa blood flow (BMBF) was measured with laser-Doppler velocimetry and bronchial mucosa haemoglobin saturation and concentration with diffuse reflectance spectrophotometry. Measurements were made preoperatively, postoperatively and after 1 week. Results. In the study group, left postoperative BMBF was significantly lower than preoperatively (115 vs. 210 PU/s, p =?0.0001) and lower than in the control group (115 vs. 205 PU/s, p =?0.002). Repeated measurement ANOVA showed a significant treatment effect depending on time (p =?0.0034). The left mucosal haemoglobin saturation in the study group was significantly reduced postoperatively, 92% versus 61%, with a treatment effect depending on time (p =?0.0080). The reduction in left/right ratio of the mucosal haemoglobin concentration 1 week postoperatively in the study group was insignificant. Conclusion. Bronchial transsection and reanastomosis without bronchial artery blood supply was followed by significant decrease in mucosal blood flow and saturation postoperatively, and also in tissue haemoglobin concentration at section, and provides a physiologic explanation of histological changes.  相似文献   
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Changes in cellular lipid metabolism are a common feature in most solid tumors, which occur already in early stages of the tumor progression. However, it remains unclear if the tumor‐specific lipid changes can be detected at the level of systemic lipid metabolism. The objective of this study was to perform comprehensive analysis of lipids in breast cancer patient serum samples. Lipidomic profiling using an established analytical platform was performed in two cohorts of breast cancer patients receiving neoadjuvant chemotherapy. The analyses were performed for 142 patients before and after neoadjuvant chemotherapy, and the results before chemotherapy were validated in an independent cohort of 194 patients. The analyses revealed that in general the tumor characteristics are not reflected in the serum samples. However, there was an association of specific triacylglycerols (TGs) in patients' response to chemotherapy. These TGs containing mainly oleic acid (C18:1) were found in lower levels in those patients showing pathologic complete response before receiving chemotherapy. Some of these TGs were also associated with estrogen receptor status and overall or disease‐free survival of the patients. The results suggest that the altered serum levels of oleic acid in breast cancer patients are associated with their response to chemotherapy.  相似文献   
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A fundamental problem in clinical neuropsychology is the estimation of premorbid levels of cognitive functioning. Lezak (1983) described the so-called 'best performance method' of estimating premorbid abilities. Essentially, this method consists in using the highest test scores or the best performance in everyday tasks as the best estimate of premorbid ability. This paper describes three studies of the empirical consequences of using the 'best performance method': The first study demonstrates that application of this method on WAIS subtests leads to a gross overestimation of intelligence as measured by the IQ. The second study corroborates this finding and also shows that overestimation of intelligence leads to systematic errors in the expected performance in neuropsychological tests in normal subjects. Finally, the third study shows that this is also the case in patients with diffuse cerebral atrophy.  相似文献   
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Episodic memory tests that measure cued recall may be particularly effective in the diagnosis of early Alzheimer's disease (AD) because they examine both episodic and semantic memory functions. The Category Cued Recall (CCR) test provides superordinate semantic cues at encoding and retrieval, and high discriminative validity has been claimed for this test. The aim of this study was to investigate the discriminative validity for this test when compared with the 10-word memory list from Alzheimer's Disease Assessment Scale (ADAS-cog) that measures free recall. The clinical diagnosis of AD was taken as the standard. It was also investigated whether the two episodic memory tests correlated with measures of semantic memory. The tests were administered to 35 patients with very mild AD (Mini Mental State Examination score > 22) and 28 control subjects. Both tests had high sensitivity (>88%) with high specificity (>89%). One out of the five semantic memory tests was significantly correlated to performances on CCR, whereas delayed recall on the ADAS-cog memory test was significantly correlated to two semantic tests. In conclusion, the discriminative validity of the CCR test and the ADAS-cog memory test was equivalent in very mild AD. This may be because CCR did not tap more semantic processes, which are impaired in the earliest phases of AD, than a test of free recall.  相似文献   
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