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991.
Rachel Saunders‐Pullman MD MPH MS Johann Hagenah MD Vijay Dhawan MD Kaili Stanley BS Gregory Pastores MD Swati Sathe MD Michele Tagliati MD Kelly Condefer MD Christina Palmese PhD Norbert Brüggemann MD Christine Klein MD AM Roe MD Ruth Kornreich PhD Laurie Ozelius PhD Susan Bressman MD 《Movement disorders》2010,25(10):1364-1372
Among the genes implicated for parkinsonism is glucocerebrosidase (GBA), which causes Gaucher disease (GD). Despite a growing literature that GD may present as parkinsonism, neuroimaging, olfaction, and neuropsychological testing have not been extensively reported. We describe transcranial sonography (TCS), 18F‐fluorodopa (F‐dopa) and fluorodeoxyglucose (FDG) Positron emission tomography, olfaction testing, neuropsychological testing, and clinical features in homozygous and compound heterozygous GBA mutation carriers identified through screening of 250 Ashkenazi Jewish parkinsonian individuals treated at a tertiary care center. We identified two individuals with N370S/R496H compound heterozygous mutations and two with N370S homozygous mutations; one individual died before completing detailed evaluation. TCS (n = 3) demonstrated nigral hyperechogenicity that was greater than controls [median area maximal substantia nigra echogenicity (aSNmax) = 0.28 cm2 vs. 0.14 cm2, P = 0.005], but similar to idiopathic PD (aSNmax = 0.31 cm2). FDG PET (n = 2) demonstrated hypermetabolism of the lentiform nuclei, and F‐fluorodopa PET (n = 2), bilateral reduction in striatal F‐dopa uptake. Olfaction was markedly impaired in the two tested cases, including onset of smell disturbance in adolescence in one. Neuropsychological features (n = 3) were consistent with Parkinson's disease (PD) or diffuse Lewy body disease (DLB). The imaging, neuropsychological and olfactory markers suggest the GD phenotype includes PD with and without features of DLB, marked olfactory loss, nigral hyperechogenicity on TCS, and F‐dopa and FDG PET abnormalities. © 2010 Movement Disorder Society 相似文献
992.
Nicotine treatment prevents chronic psychosocial stress-induced impairment of hippocampus-dependent spatial memory and long-term potentiation (LTP). In this study, we investigated the effect of chronic nicotine treatment on stress-induced enhancement of long-term depression (LTD). After paired-pulse stimulation, LTD was evoked in area CA1 of anesthetized control, stressed, nicotine-treated, and nicotine-treated stressed rats. In stressed rats, a significantly greater LTD magnitude was seen than in control rats. Stress also facilitated the induction of LTD. Nicotine treatment of stressed rats prevented stress-induced enhancement and facilitation of LTD. For chronically stressed rats, we previously reported marked decreases in the basal levels of brain-derived neurotrophic factor (BDNF), CaMKII, P-CaMKII, and calmodulin as well as a significant increase in calcineurin basal levels. Herein, Western blot analysis conducted 1 hr after induction of LTD by paired-pulse stimulation showed that the levels of calcineurin and P-CaMKII were increased in the stressed group compared with the other groups and were normalized by chronic nicotine treatment. Additionally, after paired-pulse stimulation, the levels of total CaMKII were increased in all groups with no change in the levels of BDNF and calmodulin. Therefore, the increase in the levels of calcineurin and P-CaMKII during expression of LTD in area CA1 may explain the enhanced magnitude of LTD in chronically stressed rats. 相似文献
993.
E Christensen T Warloe S Kroon J Funk P Helsing AM Soler HJ Stang Ø Vatne C Mørk 《Journal of the European Academy of Dermatology and Venereology》2010,24(5):505-512
Methyl aminolaevulinate photodynamic therapy is increasingly practiced in the treatment of actinic keratoses, Bowen’s disease and basal cell carcinomas. This method is particularly suitable for treating multiple lesions, field cancerization and lesions in areas where a good cosmetic outcome is of importance. Good treatment routines will contribute to a favourable result. The Norwegian photodynamic therapy (PDT) group consists of medical specialists with long and extensive PDT experience. With support in the literature, this group presents guidelines for the practical use of topical PDT in non‐melanoma skin cancer. 相似文献
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Vigorous compression is required to minimize radiation dose and maximize image quality for screen-film mammography. Of 356 women who adequately completed a questionnaire following mammography, 171 (48%) reported mammography to be comfortable, 135 (38%) uncomfortable but tolerable, 39 (11%) very uncomfortable, and only 11 (3%) found the examination to be intolerable. Only 14 women (4%) indicated that they would not return for mammography at our facility in the future. Because of this high level of acceptance of compression by women, technologists and radiologists should not hesitate to use vigorous compression to optimize image quality and decrease radiation dose to the patient. 相似文献
1000.
DAVENPORT A; DAVISON AM; WILL EJ; NEWTON KE; TOOTHILL C 《QJM : monthly journal of the Association of Physicians》1991,79(2):407-423
We monitored urinary aluminium excretion in 60 renal allograftrecipients for the first 6 months following transplantation.Plasma and urinary aluminium values steadily decreased duringthe study period. Patients who suffered two or more bacterialinfections during this period excreted more urinary aluminiumthan those with only one or no infections. Twenty patients experienced a two-fold or greater sudden unexpectedincrease in urinary aluminium excretion; 14 of these patients(60 per cent) had evidence of infection (10 bacterial and fourviral), at this time. Both urinary aluminium and fractionalaluminium excretion were greater in the 10 patients with bacterialinfection than in the other 10 patients. Thus, patients who suffered bacterial infections had higherbase-line urinary aluminium excretion, suggesting a higher bodyburden of aluminium. In addition, bacterial sepsis was associatedwith aluminium release from tissue stores with an associatedincrease in urinary aluminium excretion. This implies that patientswith an increased body burden of aluminium are more prone tobacterial sepsis, and that aluminium excretion is increasedduring sepsis. 相似文献