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71.
Kaindl AM Jakubiczka S Lücke T Bartsch O Weis J Stoltenburg-Didinger G Aksu F Oexle K Koehler K Huebner A 《Human mutation》2005,26(3):279-280
Microdeletion syndromes are commonly transmitted as dominant traits and are frequently associated with variably expressed pleiotropic phenotypes. Nonlethal homozygous microdeletions, on the other hand, are very rare. Here, we delineate the fifth and so far largest homozygous microdeletion in nonmalignancies of approximately 400 kb on chromosome 4q11-q12 in a large consanguineous East-Anatolian family with six affected patients. The deleted region contains the beta-sarcoglycan gene (SGCB), the predicted gene SPATA18 (spermatogenesis associated 18 homolog) and several expressed sequence tags. Patients presented with a severe and progressive Duchenne-like muscular dystrophy phenotype, a combination of hyperlaxity and joint contractures, chest pain, palpitations, and dyspnea. 相似文献
72.
人FascDNA的克隆及其在大肠杆菌中表达的研究 总被引:1,自引:1,他引:1
为获得高质量及充足的Fas蛋白,采用PCR技术调整Fas基因的开放阅读框架,使之与生物素化蛋白基因阅读框架一致;缺失了FascDNA基因的起始密码子并增加一个大肠杆菌偏性终止密码子,构建FascDNA和生物素化融合原核表达质粒PinPoint-Fas。将重组质粒转入大肠杆菌HB101,经500mmolIPTG在37℃条件下诱导4h,SDS-PAGE及Western印迹检测融合蛋白在大肠杆菌得以高效表达,表达量为细菌总蛋白的13.8%。用亲和层析树脂对生物素化融合蛋白进行亲和层析纯化,得到Fas重组的蛋白,且表达的Fas融合蛋白具有抗体结合活性。此蛋白的表达成功将解决Fas膜蛋白不易提取的难题,为深入研究Fas提供了良好材料来源 相似文献
73.
May Britt Kalvenes Reinhardt Fl Karl-Henning Kalland Gunnar Haukenes 《Journal of medical virology》1994,44(1):30-36
Patients with autoimmune chronic active hepatitis (AICAH) and certain other chronic liver disorders often have very high titres of haemagglutination -inhibition (HI) antibodies to rubella virus. In this study it is shown, using floatation centrifugation, that the high rubella HI reactivity is not caused by nonspecific lipoprotein inhibitors but rather by antibodies specific for the rubella haemagglutinin (E1 glycoprotein). After sucrose density gradient ultracentrifugation of sera the major HI reactivity was recovered in the IgG containing fractions. The IgG antibody fraction was strongly reactive by an indirect enzyme-linked immunosorbent assay (ELISA). Higher prevalence and titres of rubella antibodies were also demonstrated by the complement fixation (CF) test using a haemagglutinin-free antigen, and by an indirect haemagglutination (IHA) test (Rubacell) using a cell-associated antigen which is distinct from the antigens used in the HI and CF tests. This high rubella antibody response is therefore demonstrated using three distinct antigen-antibody systems. By means of absorption experiments and radioimmunoprecipitation assays the coating antigen used in the IHA test was shown to reside in the E2 glycoprotein. The cause of this enhanced antibody response to rubella virus structural proteins remains elusive. © 1994 Wiley-Liss, Inc. 相似文献
74.
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76.
Tadashi Yasuda Hirokazu Imai Yasushi Nakamoto Akira B. Miura Shiegki Inomata 《Virchows Archiv : an international journal of pathology》1992,421(4):297-303
Summary The pathogenesis of the nodular lesion in diabetic glomerulosclerosis is described in association with fibrils. Thirteen diabetic patients with glomerular nodular lesions and 9 diabetics without the nodules were examined by electron microscopy using periodic acid-thio-carbohydrazide-silver proteinate staining. In cases of nodular glomerulosclerosis, abundant fibrillar structures mixed with electron-dense material were detected within the nodule and the mesangial matrix. They were also occasionally observed along the subendothelial space of the glomerular capillary walls. On the cross-section, these fibrils, including the lucent periphery, were 34 nm wide. Immunohistologically, collagen V and collagen VI were detected in nodular lesions. In contrast, in cases of the diffuse type of glomerulosclerosis, the widened mesangium was composed of dense material, which resembled the original mesangial matrix. The above fibrils were not detected in the mesangium. These findings suggest that the accumulation of the peculiar fibrils in the glomerular mesangium is a major pathogenic factor in the formation of Kimmelstiel-Wilson nodules. 相似文献
77.
Katarzyna Pawowska-Gral Ewa Kusz Maria Wardas Ewa Adamek Piotr Wardas 《Experimental and toxicologic pathology》2002,54(2):147-150
We examined 72 female Wistar rats which were divided into 6 groups. The animals were administered sodium nitrate (V), vitamin E or both compounds at the same time. In order to estimate the interference of nitrates in the presence of vitamin E with the metabolism of rat's liver, we determined the composition and the amount of glycosoaminoglycans (GAGs). It was stated that the total amount of GAGs increased in livers of all rats. Basing on all fractions of the examined GAGs it was determined that the most significant differences between individual groups appeared in the amount of heparane sulphate (HS). The results obtained confirmed the fact of the changes taking place in the picture of liver GAGs in the process of ageing of the examined animals. The results obtained, however, allowed to state the normalising influence of vitamin E on the quantitative composition of GAGs of rats which drank nitrates. 相似文献
78.
Stéphanie Chasseigneaux Stéphane Haïk Isabelle Laffont-Proust Olivier De Marco Martine Lenne Jean-Philippe Brandel Jean-Jacques Hauw Jean-Louis Laplanche Katell Peoc’h 《Neuroscience letters》2006
A valine to isoleucine mutation at residue 180 was identified in a French patient with Creutzfeldt-Jakob disease (CJD). The mutation is located in the close vicinity of one of the two N-glycosylation sites of the cellular prion protein (PrPC). Western blot analysis revealed accumulation in the brain of the pathogenic proteinase K-resistant PrP (PrPSc) isoform with the notable absence of the diglycosylated band. The mutant protein expressed in CHO cells was correctly glycosylated, suggesting that the atypical glycosylation pattern of PrPSc was not due to the mutation at position 180. These results suggest that the diglycosylated form of the mutant PrP180I prevents its conversion into the pathogenic mutant form PrPSc180I, supporting a central role of N-linked glycan chains in the PrP conversion process. 相似文献
79.
We here report a molecular basis for downregulation of interferon (IFN)-beta production by V and C proteins of Sendai virus (SeV). The infection of HeLa cells with SeV poorly induced IFN-beta even if the expression of C/C' was disrupted. In contrast, when the expression of C/C'/Y1/Y2 or V/W was disrupted, SeV infection strongly induced IFN-beta production and significantly activated the interferon regulatory factor (IRF)-3 pathway. The independent expression of C or V inhibited the double-stranded (ds) RNA- or Newcastle disease virus (NDV)-induced activation of IRF-3 and NF-kappa B, as well as the IFN-beta promoter. This inhibitory effect was also observed when Y1, Y2, or a C-terminal half fragment (aa 85-204) of C was independently expressed. Phosphorylation and homodimer formation of IRF-3 were suppressed not only in cells infected with SeV capable of expressing both C/C'/Y1/Y2 (or Y1/Y2) and V/W, but also in HeLa cells constitutively expressing Y1. These results suggest that C, Y1, Y2, and V block signaling pathways leading to IRF-3 activation to downregulate IFN-beta production. 相似文献
80.
E. Orye Y. Benoit L. Roesbeke M. Van Yper M. De Wilde 《Journal of immunological methods》1983,60(3):369-377
A new bacterial rosette technique for enumerating T lymphocytes is described. E. coli (strain B; ATCC 11303), fixed in formaldehyde after overnight growth in thioglycolate medium, are mixed with washed whole blood cells (100 μl) and after incubation at 4°C, slides are made, stained and counted. The nature of the lymphocytes forming E. coli rosettes was demonstrated by comparing their cytochemical staining characteristics with those of E rosetted lymphocytes, and by mixed E. coli and E, mouse E rosette and Fc receptor tests, and by mixed E. coli rosette tests and anti-Ig staining. E. coli and E rosette tests in controls and pediatric patients were also compared. The results show that Tμ and Tγ cells rosette with E. coli. 相似文献