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101.
Biphenotypical nevi or nevi with phenotypical heterogeneity consist of phenotypically different cell populations in a pattern
other than that observed in classical combined nevi or in various maturation stages of banal nevocellular nevi. Besides several
well-known entities such as deep penetrating nevi and plexiform spindle cell nevi, this category of pigment cell lesions also
harbors fewer delineated lesions such as nevi with atypical dermal nodules (N-ADN) and nevi with a focal atypical epithelioid
cell component (N-FAECC). Their worrisome histology may result in a wrong diagnosis of malignancy. In order to discriminate
them from malignant melanoma and to shed light on their histogenesis, we analyzed the immunophenotypical profile of 33 N-FAECC,
6 N-ADN, and 10 giant congenital nevi removed shortly after birth, using antibodies directed to S100 protein, gp100, tyrosinase,
NKI-C3, Melan-A and Mib-1. In N-FAECC and N-ADN, the large polygonal cells expressed gp100, S100 protein and Melan-A, and
reacted with monoclonal antibody NKI-C3. In addition, there was intense tyrosinase expression but no Mib-1 immunoreactivity.
Unexpectedly, we observed similar single or clustered, large epithelioid cells in three out of ten giant congenital nevi;
these cells showed a similar phenotype to those observed in N-ADN and N-FAECC. Our histological and immunohistochemical data
suggest that N-FAECC and N-ADN may reflect different stages of the same disorder. Moreover, their resemblance to the large
polygonal cells in congenital nevi may suggest that the histogenesis of N-ADN and N-FAECC may be related to the persistence
and expansion of large epithelioid cells in congenital nevi shortly after birth. 相似文献
102.
Raz A Hines T Fossella J Castro D 《Cortex; a journal devoted to the study of the nervous system and behavior》2008,44(10):1336-1341
Paranormal belief and suggestibility seem related. Given our recent findings outlining a putative association between suggestibility and a specific dopaminergic genetic polymorphism, we hypothesized that similar exploratory genetic data may offer supplementary insights into a similar correlation with paranormal belief. With more affordable costs and better technology in the aftermath of the human genome project, genotyping is increasingly ubiquitous. Compelling brain theories guide specific research hypotheses as scientists begin to unravel tentative relationships between phenotype and genotype. In line with a dopaminergic brain theory, we tried to correlate a specific phenotype concerning paranormal belief with a dopaminergic gene (COMT) known for its involvement in prefrontal executive cognition and for a polymorphism that is positively correlated with suggestibility. Although our preliminary findings are inconclusive, the research approach we outline should pave the road to a more scientific account of elucidating paranormal belief. 相似文献
103.
目的 研究人海绵状血管瘤内皮细胞在形态、表型和功能方面的改变。方法 从人海绵状血管瘤组织分离、纯化血管内皮细胞,并应用透射电子显微镜、流式细胞术、逆转录聚合酶链反应(RT-PCR)、明胶酶谱法和激光共聚焦显微镜等技术与人正常人肝窦内皮细胞进行比较分析。结果 与正常人肝窦内皮细胞相比,人海绵状血管瘤内皮细胞的超微结构上,具有异常膨大的内质网和空泡样结构;表型上,高表达整合素αvβ3;功能上,体外形成血管样网络结构异常,并可能与其高表达的内源性血管内皮细胞生长因子、血管生成素1以及基质金属蛋白酶2有关。结论 人海绵状血管瘤内皮细胞在形态、表型和功能特性上都不同于正常肝窦内皮细胞。 相似文献
104.
目的利用自建的膀胱出口梗阻(BOO)细胞水平的模型,探讨转录因子E2F“诱骗”(decoy)策略抑制逼尿肌细胞(DSMC)的表型转化作用。方法对培养的DSMC施加周期性张力负荷以建立细胞水平的BOO模型;以Lipofectamine2000介导E2F—decoy脱氧寡核苷酸(ODN)转染DSMC,设立E2F-decoy ODN转染组(Decoy组),错配E2F-decoy ODN转染组(Mis—decoy组)及空白对照组(非转染组);四甲基偶氮唑盐比色法(MTT)测定细胞的增殖活性,逆转录.聚合酶链反应(RT-PCR)分析增殖细胞核抗原(PCNA)mRNA表达水平,Western印迹检测PCNA和细胞周期依赖性蛋白激酶cdk2表达。结果Lipofectamine介导转染E2F-decoy ODN后24h可获得表达;Decoy组增殖活性显著低于非转染组和Mis-decoy组(均P〈0.01);Decoy组PCNA mRNA表达显著低于非转染组(P〈0.01);Decoy组PCNA和cdk2蛋白表达显著低于非转染组(126±14vs180±10;155±6vs210±22,均P〈0.01);而Mis—decoy组与非转染组之间以上指标差异均无统计学意义(均P〉0.05)。结论E2F-decoy ODN能够转染DSMC并获得表达;转录因子E2F“诱骗”策略有效抑制了BOO后DSMC的表型转化,显示了从逼尿肌结构的角度改善梗阻后膀胱功能的前景。 相似文献
105.
PHEX gene mutations and genotype-phenotype analysis of Korean patients with hypophosphatemic rickets 总被引:1,自引:0,他引:1
Song HR Park JW Cho DY Yang JH Yoon HR Jung SC 《Journal of Korean medical science》2007,22(6):981-986
X-linked hypophosphatemic rickets (XLH) results from mutations in the PHEX gene. Mutational analysis of the PHEX gene in 15 unrelated Korean patients with hypophosphatemic rickets revealed eight mutations, including five novel mutations, in nine patients: two nonsense mutations, two missense mutations, one insertion, and three splicing acceptor/donor site mutations. Of these, c.64G>T, c.1699C>T, c.466_467 insAC, c.1174-1G>A, and c.1768+5G>A were novel mutations. To analyze the correlation between genotype and phenotype, phenotypes were compared between groups with and without a mutation, in terms of mutation location, mutation type, and sex. Skeletal disease tended to be more severe in the group with a mutation in the C-terminal half of the PHEX gene, but no genotype-phenotype correlation was detected in other comparisons. Further extensive studies of the PHEX gene mutations and analyses of the genotype-phenotype relationships are required to understand PHEX function and the pathogenesis of XLH. 相似文献
106.
大鼠骨髓间充质干细胞体外分离培养表型鉴定与标记 总被引:9,自引:1,他引:9
目的 探讨大鼠骨髓间充质干细胞(MSCs)体外分离培养、表型鉴定和标记的方法,为临床进行细胞移植治疗心、肝、脑等器官急性衰竭提供种子细胞。方法 无菌条件下取大鼠股骨、胫骨和腓骨,用冲洗法冲出骨髓,用直接贴壁法分离纯化MSCs,体外扩增,用免疫细胞化学法及流式细胞仪分别对培养的MSCs进行鉴定,并检测第3代MSCs的细胞周期。结果体外培养的原代MSCs 72h内可见有少量贴壁细胞,7d左右达到汇合。免疫细胞化学示,MSCs CD29、CD44、CD73、CD105、CD166表达阳性,而CD14、CD34、CD45表达阴性。流式细胞仪示,CD14阳性率为0.19%、CD29为64.36%、CD34为0.17%、CT44为86.73%、CD45为0.18%、CD73为90、21%、CD105为74.25%、CD166为54.60%。细胞周期显示,第3代MSCs约有90%的细胞处于G0/G1期。结论 MSCs在体外很容易分离培养和扩增,DAPI标记MSCs敏感性好,标记效率高,可作为标记细胞的一种有效手段,MSCs体外培养成功为细胞移植治疗急危重症器官衰竭提供新的治疗途径。 相似文献
107.
Dick DM Nurnberger J Edenberg HJ Goate A Crowe R Rice J Bucholz KK Kramer J Schuckit MA Smith TL Porjesz B Begleiter H Hesselbrock V Foroud T 《Alcoholism, clinical and experimental research》2002,26(10):1453-1460
BACKGROUND: Alcohol dependence is a clinically and etiologically heterogeneous disorder. Accordingly, a variety of subtypes of alcohol-dependent individuals have been proposed, and multiple operational definitions of alcohol use, abuse, and dependence have been used in linkage analyses directed toward detecting genes involved in alcohol use and problems. Here, we develop quantitative phenotypes that characterize drinking patterns among both alcoholic and nonalcoholic subjects, and use these phenotypes in subsequent linkage analyses. METHODS: More than 9000 individuals from alcoholic and control families were administered a semistructured interview and personality questionnaire as part of the initial stage of the Collaborative Study on the Genetics of Alcoholism (COGA). A principal component analysis was conducted on items that captured many of the dimensions of drinking and related behaviors, including aspects of alcohol use, antisocial behavior and affective disturbance when drinking, and personality. Factor scores were computed for all individuals. Nonparametric linkage analyses were conducted on these factor scores, in the initial COGA sample consisting of 987 individuals from 105 extended families, and in a replication sample consisting of 1295 individuals from 157 extended families. RESULTS: Three factors were identified, accounting for 68% of the total variance. The most promising regions of linkage appeared for factor 2, on which higher scores indicate a later age of onset of regular drinking and higher harm avoidance. Chromosome 1 yielded consistent evidence of linkage in both samples, with a maximum lod score of 3.3 when the samples were combined for analysis. Consistent suggestion of linkage also was found to chromosome 15. CONCLUSIONS: Developing novel phenotypes that more accurately model the effect of influential genes may help efforts to detect genes involved in complex disorders. Applying principal component analysis in the COGA sample provided support for some regions of linkage previously reported in COGA, and identified other new, promising regions of linkage. 相似文献
108.
109.
血管平滑肌细胞作为血管壁的主要细胞成分,其功能(表型转化、凋亡等)调节在颅内动脉瘤发病中发挥了重要作用。自噬可通过参与细胞功能调控进而参与血管功能的调节。在颅内动脉瘤起始阶段,自噬的激活促使血管平滑肌细胞发生表型转化,并抑制其凋亡;随着颅内动脉瘤的发展,自噬的激活与细胞凋亡由最先的对抗关系转化为协同或推动关系,血管平滑肌细胞大量凋亡导致颅内动脉瘤破裂。本文对自噬调控血管平滑肌细胞功能在颅内动脉瘤发生、发展以及破裂过程中的作用进行了系统阐述,以期为深入理解颅内动脉瘤的发病机制及寻找阻止颅内动脉瘤形成和破裂的分子靶点提供理论基础。 相似文献
110.
Prognosis and Clinicopathologic Features of Patients With Advanced Stage Isocitrate Dehydrogenase (IDH) Mutant and IDH Wild‐Type Intrahepatic Cholangiocarcinoma 下载免费PDF全文
Lipika Goyal Aparna Govindan Rahul A. Sheth Valentina Nardi Lawrence S. Blaszkowsky Jason E. Faris Jeffrey W. Clark David P. Ryan Eunice L. Kwak Jill N. Allen Janet E. Murphy Supriya K. Saha Theodore S. Hong Jennifer Y. Wo Cristina R. Ferrone Kenneth K. Tanabe Dawn Q. Chong Vikram Deshpande Darrell R. Borger A. John Iafrate Nabeel Bardeesy Hui Zheng Andrew X. Zhu 《The oncologist》2015,20(9):1019-1027