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排序方式: 共有2105条查询结果,搜索用时 31 毫秒
71.
Gabriella Marcon Antonio Indaco Giuseppe Di Fede Silvia Suardi Nicoletta Finato Valentino Moretti Sandro Micoli Paolo Fociani Pietro Zerbi Alessandro Pincherle Veronica Redaelli Fabrizio Tagliavini Giorgio Giaccone 《Brain pathology (Zurich, Switzerland)》2014,24(2):148-151
Prion diseases include sporadic, acquired and genetic forms linked to mutations of the prion protein (PrP) gene (PRNP). In subjects carrying the D178N PRNP mutation, distinct phenotypes can be observed, depending on the methionine/valine codon 129 polymorphism. We present here a 53‐year‐old woman with D178N mutation in the PRNP gene and homozygosity for valine at codon 129. The disease started at age 47 with memory deficits, progressive cognitive impairment and ataxia. The clinical picture slowly worsened to a state of akinetic mutism in about 2 years and the disease course was 6 years. The neuropathologic examination demonstrated severe diffuse cerebral atrophy with neuronal loss, spongiosis and marked myelin loss and tissue rarefaction in the hemispheric white matter, configuring panencephalopathic Creutzfeldt‐Jakob disease. PrP deposition was present in the cerebral cortex, basal ganglia and cerebellum with diffuse synaptic‐type pattern of immunoreactivity and clusters of countless, small PrP deposits, particularly evident in the lower cortical layers, in the striatum and in the molecular layer of the cerebellum. Western blot analysis showed the presence of type 1 PrPSc (Parchi classification). These findings underline the clear‐cut distinction between the neuropathological features of Creutzfeldt‐Jakob disease associated with D178N PRNP mutation and those of fatal familial insomnia. 相似文献
72.
Gianni Testino Patrizia Burra Ferruccio Bonino Francesco Piani Alessandro Sumberaz Roberto Peressutti Andrea Giannelli Castiglione Valentino Patussi Tiziana Fanucchi Ornella Ancarani Giovanna De Cerce Anna Teresa Iannini Giovanni Greco Antonio Mosti Marilena Durante Paola Babocci Mariano Quartini Davide Mioni Sarino Aricò Aniello Baselice Silvia Leone Fabiola Lozer Emanuele Scafato Paolo Borro 《World journal of gastroenterology : WJG》2014,20(40):14642-14651
Alcoholic liver disease encompasses a broad spectrum of diseases ranging from steatosis steatohepatitis, fibrosis, and cirrhosis to hepatocellular carcinoma. Forty-four per cent of all deaths from cirrhosis are attributed to alcohol. Alcoholic liver disease is the second most common diagnosis among patients undergoing liver transplantation (LT). The vast majority of transplant programmes (85%) require 6 mo of abstinence prior to transplantation; commonly referred to as the “6-mo rule”. Both in the case of progressive end-stage liver disease (ESLD) and in the case of severe acute alcoholic hepatitis (AAH), not responding to medical therapy, there is a lack of evidence to support a 6-mo sobriety period. It is necessary to identify other risk factors that could be associated with the resumption of alcohol drinking. The “Group of Italian Regions” suggests that: in a case of ESLD with model for end-stage liver disease < 19 a 6-mo abstinence period is required; in a case of ESLD, a 3-mo sober period before LT may be more ideal than a 6-mo period, in selected patients; and in a case of severe AAH, not responding to medical therapies (up to 70% of patients die within 6 mo), LT is mandatory, even without achieving abstinence. The multidisciplinary transplant team must include an addiction specialist/hepato-alcohologist. Patients have to participate in self-help groups. 相似文献
73.
Francesco Maffia Valentino Vellone Chiara De Quarto Michele Runci Anastasi Piero Cascone 《Journal of cranio-maxillo-facial surgery》2019,47(12):1898-1902
Synovial chondromatosis (SC) of the temporomandibular joint is a pseudoneoplastic condition characterized by benign cartilaginous metaplasia of synovial tissue mesenchymal residues with intra-articular nodule formation. TMJ involvement is rare. Interposition of loose bodies in the articular space can generate pressure, leading to glenoid fossa erosion with intracranial extension.The aim of this study was to present six SC cases with intracranial extension treated using a surgical procedure.All the patients were treated with open surgery. The superior compartment of the TMJ was opened widely to carefully remove the metaplasic mass. Temporal synovectomy was then performed. Attention was paid to preserving the integrity of the articular disc. The exposed dura mater was also preserved. No material was used to reconstruct the gap in the glenoid fossa.A 1-year follow-up showed no swelling or pain. Patients demonstrated good recovery of mouth opening, with improvement over previous mouth limitations. Morphological studies, performed using MRI and CT, showed complete anatomical recovery of the TMJ and total bone reconstruction of the glenoid fossa.Simple removal of intra-articular nodules, with TMJ arthroplasty and articular disk preservation, represents an efficient treatment option for full anatomical and functional recovery in synovial chondromatosis of the temporomandibular joint with glenoid fossa erosion of less than 1 cm2. 相似文献
74.
A Cassoni A Romano V Terenzi D Bartoli S Buonaccorsi V Valentini 《The Journal of craniofacial surgery》2012,23(4):e290-e292
Angiolipomas are benign mesenchymal tumors infrequently affecting the head and neck region, manifesting themselves as small (<4 cm), slow-growing mass that are painful or tender to palpation. Ultrasonography, fine needle aspiration biopsy, computed tomography, and magnetic resonance imaging can be used to make a diagnosis. Surgical excision is the treatment of choice in both infiltrating and noninfiltrating forms, even if liposuction can be considered in multiple forms. We describe a case of infiltrating intramasseterin angiolipoma, in which diagnosis was suspected after magnetic resonance imaging with gadolinium; then a transoral surgical excision was performed. To the best of our knowledge, only 1 other case of intramasseterin-infiltrating angiolipoma has been previously described. 相似文献
75.
76.
Hosszu KK Valentino A Vinayagasundaram U Vinayagasundaram R Joyce MG Ji Y Peerschke EI Ghebrehiwet B 《Blood》2012,120(6):1228-1236
C1q modulates the differentiation and function of cells committed to the monocyte-derived dendritic cell (DC) lineage. Because the 2 C1q receptors found on the DC surface-gC1qR and cC1qR-lack a direct conduit into intracellular elements, we postulated that the receptors must form complexes with transmembrane partners. In the present study, we show that DC-SIGN, a C-type lectin expressed on DCs, binds directly to C1q, as assessed by ELISA, flow cytometry, and immunoprecipitation experiments. Surface plasmon resonance analysis revealed that the interaction was specific, and both intact C1q and the globular portion of C1q bound to DC-SIGN. Whereas IgG reduced this binding significantly, the Arg residues (162-163) of the C1q-A chain, which are thought to contribute to the C1q-IgG interaction, were not required for C1q binding to DC-SIGN. Binding was reduced significantly in the absence of Ca(2+) and by preincubation of DC-SIGN with mannan, suggesting that C1q binds to DC-SIGN at its principal Ca(2+)-binding pocket, which has increased affinity for mannose residues. Antigen-capture ELISA and immunofluorescence microscopy revealed that C1q and gC1qR associate with DC-SIGN on blood DC precursors and immature DCs. The results of the present study suggest that C1q/gC1qR may regulate DC differentiation and function through the DC-SIGN-mediated induction of cell-signaling pathways. 相似文献
77.
78.
Diane Mullins Eileen Daly Andrew Simmons Felix Beacher Catherine ML Foy Simon Lovestone Brian Hallahan Kieran C Murphy Declan G Murphy 《Journal of Neurodevelopmental Disorders》2013,5(1):19
Background
Down’s syndrome (DS) is the most common genetic cause of intellectual disability. People with DS are at an increased risk of Alzheimer’s disease (AD) compared to the general population. Neuroimaging studies of AD have focused on medial temporal structures; however, to our knowledge, no in vivo case–control study exists comparing the anatomy of dementia in DS to people with AD in the general population. We therefore compared the in vivo brain anatomy of people with DS and dementia (DS+) to those with AD in the general population.Method
Using MRI in 192 adults, we compared the volume of whole brain matter, lateral ventricles, temporal lobes and hippocampus in DS subjects with and without dementia (DS+, DS-), to each other and to three non-DS groups. These included one group of individuals with AD and two groups of controls (each age-matched for their respective DS and general population AD cohorts).Results
AD and DS+ subjects showed significant reductions in the volume of the whole brain, hippocampus and temporal lobes and a significant elevation in the volume of the lateral ventricle, compared to their non-demented counterparts. People with DS+ had a smaller reduction in temporal lobe volume compared to individuals with AD.Conclusions
DS+ and AD subjects have a significant reduction in volume of the same brain regions. We found preliminary evidence that DS individuals may be more sensitive to tissue loss than others and have less ‘cognitive reserve’. 相似文献79.
PS Spencer K Vandemaele M Richer VS Palmer S Chungong M Anker Y Ayana ML Opoka BN Klaucke A Quarello JK Tumwine 《African health sciences》2013,13(2):183-204
Background
Nodding Syndrome is a seizure disorder of children in Mundri County, Western Equatoria, South Sudan. The disorder is reported to be spreading in South Sudan and northern Uganda.Objective
To describe environmental, nutritional, infectious, and other factors that existed before and during the de novo 1991 appearance and subsequent increase in cases through 2001.Methods
Household surveys, informant interviews, and case-control studies conducted in Lui town and Amadi village in 2001–2002 were supplemented in 2012 by informant interviews in Lui and Juba, South Sudan.Results
Nodding Syndrome was associated with Onchocerca volvulus and Mansonella perstans infections, with food use of a variety of sorghum (serena) introduced as part of an emergency relief program, and was inversely associated with a history of measles infection. There was no evidence to suggest exposure to a manmade neurotoxic pollutant or chemical agent, other than chemically dressed seed intended for planting but used for food. Food use of cyanogenic plants was documented, and exposure to fungal contaminants could not be excluded.Conclusion
Nodding Syndrome in South Sudan has an unknown etiology. Further research is recommended on the association of Nodding Syndrome with onchocerciasis/mansonelliasis and neurotoxins in plant materials used for food. 相似文献80.
该文旨在介绍Beth Israel医疗中心采用大剂量术中放疗(HDR-IORT)治疗复发头颈癌的经验。对2001-2010年间头颈癌局部复发接受大剂量HDR-IORT的患者进行回顾分析。结果,76例患者的87个部位在肿瘤切除后接受了治疗。术后2年控制率为62%。平均总生存期为19个月,其中42%的患 相似文献