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排序方式: 共有677条查询结果,搜索用时 15 毫秒
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Stefania Barozzi Daniela Soi Elisabetta Intieri Marisa Giani Mirko Aldè Eleonora Tonon Lia Signorini Alessandra Renieri Chiara Fallerini Paola Perin Giovanni Montini Umberto Ambrosetti 《American journal of medical genetics. Part A》2020,182(10):2345-2358
Alport syndrome (AS) is caused by mutations in collagen IV, which is widespread in the basement membranes of many organs, including the kidneys, eyes, and ears. Whereas the effects of collagen IV changes in the cochlea are well known, no changes have been described in the posterior labyrinth. The aim of this study was to investigate both the auditory and the vestibular function of a group of individuals with AS. Seventeen patients, aged 9–52, underwent audiological tests including pure‐tone and speech audiometry, immittance test and otoacoustic emissions and vestibular tests including video head impulse test, rotatory test, and vestibular evoked myogenic potentials. Hearing loss affected 25% of the males and 27.3% of the females with X‐linked AS. It was sensorineural with a cochlear localization and a variable severity. 50% of the males and 45.4% of the females had a hearing impairment in the high‐frequency range. Otoacoustic emissions were absent in about one‐third of the individuals. A peripheral vestibular dysfunction was present in 75% of the males and 45.4% of the females, with no complaints of vertigo or dizziness. The vestibular impairment was compensated and the vestibulo‐ocular reflex asymmetry was more evident in rotatory tests carried out at lower than higher speeds; a vestibular hypofunction was present in all hearing impaired ears although it was also found in subjects with normal hearing. A posterior labyrinth injury should be hypothesized in AS even when the patient does not manifest hearing disorders or evident signs of renal failure. 相似文献
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Carbone A Gloghini A Volpe R Canzonieri V Perin T Passannante A Gaidano G 《Pathologica》1998,90(6):763-770
Patients with acquired immunodeficiency syndrome (AIDS) are at increased risk of developing non Hodgkin's lymphomas (NHL). Current estimates indicate that 5-10% of HIV-infected individuals develop AIDS-related NHL (AIDS-NHL). AIDS-NHL share several clinical features, including frequent extranodal presentation, aggressive clinical course and poor outcome. However, AIDS-NHL are a heterogeneous group of malignancies. They traditionally included systemic and primary brain lymphomas, but nowadays their updated clinicopathologic spectrum also comprises two novel entities, namely primary effusion lymphoma and plasmablastic lymphoma of the oral cavity. In the last few years, several studies have shown that the pathologic heterogeneity of AIDS-NHL correlates with the heterogeneity of the molecular lesions associated with these lymphomas. However, despite their pathologic and molecular heterogeneity, AIDS-NHL have a common B-cell origin, although the precise stage of B-cell differentiation reflected by the different tumor types has not been clarified yet. 相似文献
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M Notani K Amano H Kawamura T Tanikawa H Kawabatake H Iseki T Shiwaku T Nagao Y Iwata T Taira 《No shinkei geka. Neurological surgery》1987,15(3):251-258
CT-guided stereotactic brachytherapy has been performed for the deep-seated malignant gliomas using the double-catheter after-loading method. The catheter system consists of two coaxial polyethylene tubes with closed tips. The outer catheter is 3.0 mm in outer diameter and 2.4 mm in inner diameter. The inner catheter is 2.0 mm in outside diameter and 1.4 mm in inside diameter, and contains the radioactive sources. Localization of the target volume is determined by the preoperative findings of computed tomography (CT), magnetic resonance imaging (MRI), and cerebral angiography. Dosimetry and dose planning are so finalized for the target volume as to be irradiated interstitially more than tumoricidal dose. After stereotactic biopsy of the deep-seated brain tumors, stereotactic implantation of the outer catheters is performed using Iseki Stereotactic System in the CT room. Burr holes had been previously opened in the operating room. The inner catheters containing nonradioactive sources (dummy sources) are inserted, and skull X-p is taken to confirm the position of the dummy sources, and to calculate the dosimetry by computer. The inner catheters are replaced with catheters containing radioactive sources (226Ra) in the irradiation room. 226Ra sources deliver at least 500 rads/day (approximately 20 rads/hr) to the target volume as interstitial irradiation. Two patients of malignant gliomas treated with this procedure were shown as representative cases. These patients underwent CT-guided stereotactic brachytherapy as "boost" combined with conventional external irradiation.(ABSTRACT TRUNCATED AT 250 WORDS) 相似文献
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Different groups have observed retrovirus particle (RVP) production in cell cultures from patients with multiple sclerosis (MS). This in vitro production appeared relatively specific for MS versus healthy controls, but was likely to be enhanced or activated by infectious triggers such as Herpesviruses (e.g. HSV, EBV). Independent molecular analysis of retroviral RNA associated with RVP revealed two different genetic families of endogenous retroviral elements (HERV): MSRV/HERV-W and RGH/HERV-H. Interestingly, these sequences were detected by mutually exclusive primers in RT - PCR amplifications. Surprisingly, these two HERV families both contain an ancestral proviral copy inserted in chromosome 7q21-22 region at about 1 kb of distance of each other. Another HERV-W proviral sequence is located within a T-cell alpha-delta receptor (TCR) gene in chromosome 14q11.2 region. Interestingly, these two regions correspond to genetic loci previously identified as potentially associated with 'multigenic' susceptibility to MS and TCR alpha chain genetic determinants have been reported to be statistically associated with MS. A plausible role for infectious agents triggering a co-activation of the chromosome 7q HERV tandem (replicative retrovirus and/or other virus and/or intracellular bacteria) and, eventually, other HERV copies, is discussed. The role of particular HERV polymorphism and the production of pathogenic molecules (gliotoxin and superantigen) possibly associated with retroviral expression are also evoked. An integrative concept of pathogenic 'chain-reaction' in MS involving several step-specific pathogenic 'agents' and 'products' somewhat interacting with particular genetic elements would federate most partial data obtained on MS, including retroviral expression. 相似文献
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