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排序方式: 共有247条查询结果,搜索用时 15 毫秒
61.
Leigh syndrome is an inherited, progressive neurodegenerative disorder of infancy and childhood. Mutations in the nuclear SURF-1 gene are specifically associated with cytochrome C oxidase-deficient Leigh syndrome. This report describes two patients with similar facial features. One of them was a 2(1/2)-year-old male, and the other was a 3-year-old male with a mutation in SURF-1 gene and facial dysmorphism including frontal bossing, brachycephaly, hypertrichosis, lateral displacement of inner canthi, esotropia, maxillary hypoplasia, hypertrophic gums, irregularly placed teeth, upturned nostril, low-set big ears, and retrognathi. The first patient's magnetic resonance imaging at 15 months of age indicated mild symmetric T2 prolongation involving the subthalamic nuclei. His second magnetic resonance imaging at 2 years old revealed a symmetric T2 prolongation involving the subthalamic nuclei, substantia nigra, and medulla lesions. In the second child, at the age of 2 the first magnetic resonance imaging documented heavy brainstem and subthalamic nuclei involvement. A second magnetic resonance imaging, performed when he was 3 years old, revealed diffuse involvement of the substantia nigra and hyperintense lesions of the central tegmental tract in addition to previous lesions. Facial dysmorphism and magnetic resonance imaging findings, observed in these cases, can be specific findings in Leigh syndrome patients with cytochrome C oxidase deficiency. SURF-1 gene mutations must be particularly reviewed in such patients. 相似文献
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Stroom JC Olofsen-van Acht MJ Quint S Seven M de Hoog M Creutzberg CL de Boer HC Visser AG 《International journal of radiation oncology, biology, physics》2000,46(2):499-506
PURPOSE: Positioning of patients with gynecologic tumors for radiotherapy has proven to be relatively inaccurate. To improve the accuracy and reduce the margins from clinical target volume (CTV) to planning target volume (PTV), on-line set-up corrections were investigated. METHODS AND MATERIALS: Anterior-posterior portal images of 14 patients were acquired using the first six monitor units (MU) of each irradiation fraction. The set-up deviation was established by matching three user-defined landmarks in portal and simulator image. If the two-dimensional deviation exceeded 4 mm, the table position was corrected. A second portal image was acquired using 30 MU of the remaining dose. This image was analyzed off-line using a semiautomatic contour match to obtain the final set-up accuracy. To verify the landmark match accuracy, the contour match was retrospectively performed on the six MU images as well. RESULTS: The standard deviation (SD) of the distribution of systematic set-up deviations after correction was < 1 mm in left-right and cranio-caudal directions. The average random deviation was < 2 mm in these directions (1 SD). Before correction, all standard deviations were 2 to 3 mm. The landmark match procedure was sufficiently accurate and added on average 3 min to the treatment time. The application of on-line corrections justifies a CTV-to-PTV margin reduction to about 5 mm. CONCLUSIONS: On-line set-up corrections significantly improve the positioning accuracy. The procedure increases treatment time but might be used effectively in combination with off-line corrections. 相似文献
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Aslan S Uzkeser M Seven B Gundogdu F Acemoglu H Aksakal E Varoglu E 《Human & experimental toxicology》2006,25(8):439-446
Carbon monoxide (CO) poisoning is the leading cause of death from intoxication. In CO poisoning, it is important to know if there are any symptoms regarding myocardial damage, which are usually unobserved as a result of hypoxia. This study was planned to assess myocardial damage in young healthy patients with CO poisoning. Eighty-three young healthy cases who had been exposed to CO were included in this study. The demographic and clinical characteristics, the origin of CO gas and smoking habits of the patients were recorded. The evaluation of ECG, peripheral ABG, complete blood count and serial cardiac biomarkers (creatine kinase, creatine kinase-myocardial band and troponin I) measurements were performed in all cases. Additionally, echocardiogram (ECHO) and myocardial perfusion single-photon emission computed tomography (SPECT) were performed at the appropriate times in all cases. The mean age of the patients was 27.3 +/- 10.9 years. The main complaint of the patients was loss of consciousness with a 62.7% rate. The average carboxyhaemoglobin level of the patients was 34.4 +/- 15.9%. Sinus tachycardia was present in 26.5% of patients. Diagnostic ischaemic ECG changes were present in 14.4% of patients. In myocardial SPECT, myocardial ischaemic damage was observed in 9 cases, in 6 of whom ECHO findings were also confirmed. Myocardial damage due to CO poisoning should not be ignored. If patients are at risk in terms of myocardial damage, further studies, such as ECHO and scintigraphy are needed to determine myocardial damage resulting from CO poisoning. However, in the young adults of the risk group, if the baseline ECG and serial cardiac biomarkers are normal, further studies such as ECHO and scintigraphy, considering the length of exposure and the severity of poisoning, may not be necessary for the evaluation of myocardial damage due to CO poisoning. 相似文献
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Cengiz M Yüksel A Ozaydin A Ozkiliç A Cetinel O Seven M 《Drug metabolism and drug interactions》2005,21(2):109-115
The anti-epileptic drug vigabatrin was developed as an inhibitor of gamma-aminobutyric acid transaminase, and its ability to increase inhibition in the central nervous system led to its testing in an animal model. In animal models chronic use of vigabatrin is associated with irreversible myelin vacuolation. Antioxidant drugs change the antioxidant capacity of the body. Oxidative stress of the body increased when valproic acid and carbamazepine were used chronically. To assess whether vigabatrin may affect protein oxidation and lipid peroxidation, glutathione, glutathione peroxidase (GPx), and glutathione-S-transferase (GST) levels were studied in the livers of 57 rat fetuses after administration of vigabatrin to the mothers (19 in the first week of pregnancy, 20 in the second week, and 18 in the third week) and in 19 control rat fetuses without vigabatrin. We compared the results of administration of vigabatrin in each group with the controls. Rat fetus protein oxidation in group I (0.686 nmol/mg protein) and group II (0.723 nmol/mg protein) was higher than in the control group (0.388 nmol/mg protein). Lipid peroxidation (0.209, 0.224, 0.253 nmol/mg protein, respectively) and GPx levels (345.4, 329.0, 283.2 nmol/mg protein, respectively) of groups I, II, and III were higher than in the control group (0.104, 167.2 nmol/mg protein, respectively). GST in group II (79.2 nmol/mg protein) and group III (77.8 nmol/mg protein) were not different from that in the control group (78 nmol/mg protein). It was found that vigabatrin affected all the parameters that were studied, especially in group I, which was given the drug in the first week of pregnancy. 相似文献
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Panoramic radiographs of two female patients ages 22 and 21 revealed the presence of two impacted bilateral upper fourth molars and unilateral (right) upper fourth and fifth molars. All of the teeth were distomolars. The supernumerary teeth had normal tooth morphology with regard to their crowns and roots but were slightly smaller than the existing third molars. Their crowns were either two or three tuberculated and they all had single roots. 相似文献
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Gencoglu EA Aras G Kucuk O Atay G Tutak I Ataman S Soylu A Ibis E 《Clinical nuclear medicine》2002,27(6):395-400
PURPOSE: The aim of this study was to determine the utility of Tc-99m human polyclonal immunoglobulin G (HIG) scintigraphy for evaluating the efficacy of yttrium-90 (Y-90) silicate therapy in rheumatoid knee synovitis. MATERIALS AND METHODS: Fifteen patients (13 women, 2 men; mean age, 53.5 +/- 8.4 years) with rheumatoid arthritis had radionuclide synovectomy using 185 MBq (5 mCi) Y-90 silicate to evaluate 24 knee joints with chronic persistent synovitis. Radiologic and clinical evaluations and Tc-99m HIG scans were performed in each patient before radionuclide synovectomy. Each patient was reassessed 3, 6, 9, and 12 months after therapy using clinical examination and Tc-99m HIG scintigraphy. RESULTS: In 14 of 24 knee joints (4 Larsen stage I, 10 Larsen stage II) that had excellent or good clinical responses to Y-90 silicate therapy, the Tc-99m HIG index values 3 months after treatment were significantly lower than the pretreatment index values (P < 0.001). In 13 of these 14 joints, these low index values and clinical results remained constant throughout the 1 year of follow-up. One patient (1 of the 14 knee joints) experienced severe pain and swelling as a result of recurrent arthritis at 9 months, and the Tc-99m HIG index value increased at 9 months and remained high 12 months after therapy. In 10 of 24 knee joints (4 Larsen stage II, 6 Larsen stage III) that had a fair or poor clinical response, Tc-99m HIG index values were statistically similar before and after radionuclide therapy. CONCLUSIONS: Quantitative Tc-99m HIG scintigraphy is a valuable method for assessing the efficacy of Y-90 silicate therapy in rheumatoid knee synovitis. 相似文献