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21.
D. M. Taylor 《Clinical microbiology and infection》2002,8(6):332-339
Bovine spongiform encephalopathy (BSE) clearly originated in the UK, where there have now been more than 180 000 cases. However, through the exportation of cattle and cattle-feed additives from the UK, BSE also became established to a lesser extent in other European countries. There is current concern that BSE might have been distributed more widely as a result of the exportation of cattle or BSE-infected feed or foodstuff not only from the UK but also from other European countries that later became affected. It is now recognized that the transmissible agent that causes BSE also causes a new variant form of Creutzfeldt–Jakob disease (vCJD) in humans, and the evidence for this is presented. This probably resulted from dietary exposure to the bovine agent, and the potential role of mechanically recovered meat is discussed. There is a brief discussion on the controversial issue of the nature of the causal agents of diseases like BSE and vCJD. Whether or not sheep or goats could have become infected with BSE, and whether they represent a human health hazard, is also debated. Finally, the question of the control of BSE, and consequently vCJD, is discussed with regard to the rigorous application of the relevant regulations. 相似文献
22.
Laboratory diagnosis of variant Creutzfeldt-Jakob disease 总被引:1,自引:0,他引:1
The neuropathological and biochemical features of 33 cases of variant Creutzfeldt-Jakob disease (vCJD) diagnosed up to the end of 1998 are analysed in relation to the 646 cases of suspected CJD referred to the CJD Surveillance Unit laboratory from 1990 to 1998. Morphological studies of the central nervous system, lymphoid tissues and other organs were accompanied by immunocytochemistry; Western blot analysis of PrPRES was performed on frozen brain tissue. The findings were analysed in relation to clinical and genetic data. The pathology of vCJD showed morphological and immunocytochemical characteristics distinct from other cases of CJD. PrP accumulation was widespread in lymphoid tissues in vCJD, but was not identified in other non-neural tissues. PrPRES accumulation in vCJD brain tissue showed a uniform glycotype pattern distinct from sporadic CJD. All analysed cases of vCJD were methionine homozygotes at codon 129 of the PrP gene. No evidence currently exists to suggest that cases of CJD diagnosed in individuals who are MV or VV at codon 129 of the PrP gene represent 'human bovine spongiform encaphalopathy (BSE)'. Continued surveillance is required to further investigate this possibility, with the need to investigate autopsy tissues from suspected cases by histological and biochemical techniques. 相似文献
23.
Normal skeletal variants are a common occurrence in clinical practice and may lead to misinterpretation. As part of a case control study investigating the carpal tunnel, our asymptomatic and voluntary participant underwent magnetic resonance (MR) imaging of both wrists from the metacarpal bases to the distal radiocarpal joint. The imaging techniques included spin echo (SE), turbo spin echo (TSE) and fast field echo (FFE) sequences using 4 mm-slice thickness. As an incidental finding bipartite hamulus was detected bilaterally. The anomaly was evident in both hamuli with similar MRI characteristics. The congenital origin was further supported by the absence of trauma or surgery to the wrists. In this case report the authors discuss the anatomical variant, bilateral bipartite hook of the hamate, and demonstrate the reliability of contiguous slices of MR axial slices in displaying an anatomical variant of the carpus. This normal variant of the hamate is not commonly encountered in MR imaging of the wrist and can be misinterpreted as fracture or post-traumatic sequelae. Images of the normal hamulus are presented for comparison. 相似文献
24.
25.
ABSTRACT Two horses were infected with distinct non-tsetse transmitted Trypanozoon Venezuelan stocks, namely TeAp-N/D1 Trypanosoma equiperdum and TeAp-El Frio01 Trypanosoma evansi. Preceding reports have revealed that a 64-kDa antigenic glycopolypeptide (p64), which is the soluble form of the predominant variant surface glycoprotein from TeAp-N/D1 T. equiperdum, can be used as a good antigen for immunodiagnosis of animal trypanosomosis. Here, the course of the experimental acute infection in both horses was monitored by evaluating total anti-p64 IgG and particular anti-p64 γ-specific IgG and μ-specific IgM isotypes in sera using indirect enzyme-linked immunosorbent assays. Both equines showed a maximum of whole anti-p64 antibody generation, which dropped to readings below the maximum but always above the positive cutoff point. Levels of specific IgG and IgM isotypes oscillated throughout the course of the experiments. Essentially, the γ-specific IgG response remained very close to the cutoff point, whereas the μ-specific IgM response displayed values that were mostly above the positive cutoff point, showing a major peak that coincided with the maximum of complete anti-p64 IgG production. These results showed that horses infected with non-tsetse transmitted Trypanozoon parasites developed an immune reaction characterized by a dominant IgM generation against the p64 antigen. 相似文献
26.
API2-MALT1融合基因变异体在粘膜相关淋巴组织结外边缘区B细胞淋巴瘤中的分布及凋亡的关系 总被引:2,自引:0,他引:2
目的探讨API2-MALT1融合基因变异体在粘膜相关淋巴组织结外边缘区B细胞淋巴瘤(extranodal marginal zone B—cell lymphoma of mucosa—associated lymphoid tissue,MALT)中的分布特点及其转录与肿瘤凋亡的关系。方法将逆转录-聚合酶链反应和巢式聚合酶链式反应结合,检测62例不同部位MALT淋巴瘤中API2-MALT1融合基因的多种变异体;通过TdT介导脱氧核苷酸缺口末端标记技术进行肿瘤细胞的原位凋亡检测;通过逆转录-聚合酶链反应和免疫组化染色检测API2的mRNA和蛋白水平。结果62例MALT淋巴瘤中28例检出API2-MALT1融合基因(45.16%),为变异体A1446-M1123或A1446-M814,但未检出A1446-M541和A1446-M1150。A1446-M1123(18/28)的检出明显多于A1446-M814(10/28)。融和基因转录在甲状腺MALT淋巴瘤中检出最低,在其它部位的分布无差异。在API2-MALT1^ 组(API2-MALT1mRNA表达阳性组)肿瘤凋亡水平明显高于API2-MALT1^-组(API2-MALT1mRNA表达阴性组),API2的mRNA和蛋白水平低于阴性组。A1446-M1123^ 与A1446-M814^ 病例之间凋亡和API2的变化无差异。结论MALT淋巴瘤中t(11;18)(q21;q21)的发生有部位差异,A1446-M1123可能是中国人MALT淋巴瘤中API2-MALT1融合基因变异体的主要类型。API2-MALT1融合基因转录与MALT淋巴瘤的凋亡水平和API2的变化有关。 相似文献
27.
Anne Guimier Christopher T. Gordon Marie Hully Thomas Blauwblomme Véronique Minard‐Colin Christine Bole‐Feysot Patrick Nitschké Myriam Oufadem Nathalie Boddaert Sabine Sarnacki Jeanne Amiel 《American journal of medical genetics. Part A》2019,179(7):1304-1309
The spectrum of clinical consequences of variants in the Platelet derived growth factor receptor beta (PDGFRB) gene is wide. Missense variants leading to variable loss of signal transduction in vitro have been reported in the idiopathic basal ganglia calcification (IBGC) syndrome Type 4. In contrast, gain‐of‐function variants have been reported in infantile myofibromatosis, Penttinen syndrome, and Kosaki overgrowth syndrome. Here, we report a patient harboring a novel postzygotic variant in PDGFRB (c.1682_1684del, p.[Arg561_Tyr562delinsHis]) and presenting severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosis. This observation expands the phenotype associated with PDGFRB variants and illustrates the wide clinical spectrum linked to dysregulation of PDGFRB. 相似文献
28.
29.
Sobrinho-Simões M Preto A Rocha AS Castro P Máximo V Fonseca E Soares P 《Virchows Archiv : an international journal of pathology》2005,447(5):787-793
The newly discovered molecular features of well-differentiated thyroid carcinomas derived from follicular cells are reviewed,
within the frame of the 2004 WHO classification of thyroid tumours, under the following headings: “Follicular carcinoma”,
“Papillary carcinoma”, “Follicular variant of papillary carcinoma” and “Hürthle cell tumours”. A particular emphasis is put
on the meaning of PAX8–PPARγ rearrangements, RAS and BRAF mutations, and deletions and mutations of mitochondrial genes and of nuclear genes encoding for mitochondrial enzymes, for
thyroid tumorigenesis. 相似文献
30.
目的 探讨一例核型为47,XY,t(5;17),+22的少见急性早幼粒细胞白血病(acute promyelo-cytic leukemia,APL)的临床和实验特征.方法 在常规核型分析的基础上,应用荧光原位杂交(fluorescencein situ hybridization,FISH)和多重荧光原位杂交(multiplex fluorescence in situ hybridization,M-FISH)技术进一步检测该病例的细胞遗传学异常,并结合文献分析此类少见变异易位的临床特点.结果 FISH检测PML-RARa阴性,但77%的细胞显示存在17号RARa基因的重排或复制;BCR-ABL阴性,但74%的细胞显示有22号染色体的复制或重排.M-FISH明确RARa基因重排系5号与17号染色体易位所致,并证实了22号三体的存在.结论 变异型t(5;17)易位,形成NPM-RARa融合基因的急性早幼粒细胞白血病是APL中少见的类型.骨髓形态表现为奥氏小体缺如,核型中常伴有其它附加染色体异常,全反式维甲酸(all-trans retinoicacid,ATRA)联合化疗有效,但易复发,合并弥漫性血管内凝血及高白细胞者预后凶险. 相似文献