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Zoppoli G Bianchi F Bruzzone A Calvia A Oneto C Passalia C Balleari E Bedognetti D Ponomareva E Nazzari E Castelletti L Castellan L Minuto F Ghio R Ferone D 《Pituitary》2012,15(2):209-214
Polycythemia associated with acromegaly is usually caused by the systemic manifestations of the disease, such as sleep-apnea or concomitant erythropoietin-secreting kidney tumors. The recognition of underlying pathologies requires a thorough diagnostic process. We report a unique case of acromegaly with polycythemia, not caused by commonly described manifestations of the disease, and receding with octreotide therapy. The medical history of 141 acromegalic patients followed by the Endocrinology Unit of the San Martino University Hospital in Genoa has been also reviewed, together with the literature evidence for similar cases. The diagnostic workflow and 2-years follow-up of a 43-years old acromegalic, polycythemic man with a history of past smoking, moderate hypertension, and mental retardation are described. The hematological parameters of our cohort was retrospectively compared with those of a healthy, age/gender-related control group as well. Therapy with octreotide LAR, 20?mg i.m. q28d was begun soon after diagnosis of acromegaly in the polycythemic patient. Haematocrit level, hormonal setting, as well as pituitary tumor size and visual perimetry during treatment were recorded. Octreotide LAR treatment normalized hormonal alterations, as well as hematological parameters. Polycythemia has not recurred after 2?years of therapy. The median hemoglobin and hematocrit levels of the retrospectively analyzed cohort of acromegalic were significantly lower than normal ranges of a healthy, age/sex- related control population. In conclusions, polycythemia can be a direct, albeit rare, secondary manifestation of acromegaly, that must be considered during the diagnostic work-up of acromegalic patients presenting with such disorder. 相似文献
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Hendriksen IC Ferro J Montoya P Chhaganlal KD Seni A Gomes E Silamut K Lee SJ Lucas M Chotivanich K Fanello CI Day NP White NJ von Seidlein L Dondorp AM 《Clinical infectious diseases》2012,55(8):1144-1153
Background.?Severe falciparum malaria with human immunodeficiency virus (HIV) coinfection is common in settings with a high prevalence of both diseases, but there is little information on whether HIV affects the clinical presentation and outcome of severe malaria. Methods.?HIV status was assessed prospectively in hospitalized parasitemic adults and children with severe malaria in Beira, Mozambique, as part of a clinical trial comparing parenteral artesunate versus quinine (ISRCTN50258054). Clinical signs, comorbidity, complications, and disease outcome were compared according to HIV status. Results.?HIV-1 seroprevalence was 11% (74/655) in children under 15 years and 72% (49/68) in adults with severe malaria. Children with HIV coinfection presented with more severe acidosis, anemia, and respiratory distress, and higher peripheral blood parasitemia and plasma Plasmodium falciparum histidine-rich protein-2 (PfHRP2). During hospitalization, deterioration in coma score, convulsions, respiratory distress, and pneumonia were more common in HIV-coinfected children, and mortality was 26% (19/74) versus 9% (53/581) in uninfected children (P?.001). In an age- and antimalarial treatment-adjusted logistic regression model, significant, independent predictors for death were renal impairment, acidosis, parasitemia, and plasma PfHRP2 concentration. Conclusions.?Severe malaria in HIV-coinfected patients presents with higher parasite burden, more complications, and comorbidity, and carries a higher case fatality rate. Early identification of HIV coinfection is important for the clinical management of severe malaria. 相似文献
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Caterina Michelozzi Giovanni Di Leo Federica Galli Fabiane Silva Barbosa Francesca Labriola Francesco Sardanelli Gianpaolo Cornalba 《Child's nervous system》2013,29(2):249-254
Purpose
The purpose of this study was to estimate the association among the presence of subependymal nodules (SENs), subependymal giant cell tumours (SGCTs) and gene mutation in tuberous sclerosis complex (TSC) patients.Methods
Clinical records and images of 81 TSC patients were retrospectively reviewed by two neuroradiologists in consensus. All patients were assessed for gene mutations and were categorized as TSC1 or TSC2 mutation carriers, or no-mutations-identified (NMI) patients. They underwent a brain magnetic resonance imaging (MRI) using 0.1 mmol/kg of gadobutrol. Any enhancing SEN?≥?1 cm and placed near the foramen of Monro was considered SGCT. Two MRI follow-up exams for each patient with SGCT were evaluated to assess tumour growth using Wilcoxon and chi-squared tests.Results
Of 81 patients, 44 (54 %) were TSC2 mutation carriers, 20 (25 %) TSC1 and 17 (21 %) NMI. Nine (11 %) had a unilateral and three (4 %) a bilateral SGCT. Fifty of 81 patients (62 %) showed at least one SEN. None of the 31 patients without SEN showed SGCTs, whilst 12 (24 %) of the 50 patients with at least one SEN showed SGCTs (p?=?0.003). The association between the presence of SGCT or SEN and gene mutation was not significant (p?=?0.251 and p?=?0.187, respectively). At follow-up, the median SGCT diameter increased from 14 to 15 mm (p?=?0.017), whilst the median SGCT volume increased from 589 to 791 mm3 (p?=?0.006).Conclusions
TSC patients with SENs are more likely to present with SGCT than those without SENs, in particular for TSC2 mutation carriers. The SGCT growth rate may be missed if based on the diameter instead of on the volume. 相似文献119.
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De Michele Giovanna Galatolo Daniele Galosi Serena Mignarri Andrea Silvestri Gabriella Casali Carlo Leuzzi Vincenzo Ricca Ivana Barghigiani Melissa Tessa Alessandra Cioffi Ettore Caputi Caterina Riso Vittorio Dotti Maria Teresa Saccà Francesco De Michele Giuseppe Cocozza Sirio Filla Alessandro Santorelli Filippo M. 《Journal of neurology》2022,269(3):1476-1484
Journal of Neurology - Spinocerebellar ataxia type 14 (SCA14) is a dominantly inherited neurological disorder characterized by slowly progressive cerebellar ataxia. SCA14 is caused by mutations in... 相似文献