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71.
J. C. W. Mak H. C. M. Leung S. P. Ho F. W. S. Ko A. H. K. Cheung M. S. M. Ip M. M. W. Chan-Yeung 《Clinical and experimental allergy》2006,36(4):440-447
BACKGROUND: Reactive oxygen species may contribute to the pathogenesis of asthma. Functional genetic polymorphisms of antioxidant enzymes, superoxide dismutase (SOD) and catalase are good candidates for asthma susceptibility. OBJECTIVE: To investigate the association of the manganese-containing form of SOD (MnSOD) gene at amino acid position 16 (Val16Ala) and catalase gene in the promoter at A-21T and C-262T polymorphisms and asthma in a Hong Kong Chinese population. METHODS: The association study was conducted in a case-control design in asthma patients (n=251) and healthy controls (n=316) by genotyping. The functional significance was assessed by determining erythrocyte SOD and catalase activity. RESULTS: The Val allele of MnSOD at Val16Ala and the A allele of catalase gene at A-21T were not different between patients and controls, while the C allele of catalase gene at C-262T was found to be significantly different between patients and controls (P=0.033). The less frequent variant of catalase gene (-262T) was found to be protective from the development of asthma in a Hong Kong Chinese non-smoking population (adjusted odds ratio=0.35, 0.15-0.85; P=0.017). Asthma patients had elevated erythrocyte SOD and catalase activities in comparison with healthy controls (P<0.01). However, their activities were not associated with different genotypes within healthy controls or asthma patients. CONCLUSION: This is the first report showing that SOD and catalase functional activities are not associated with their respective genetic polymorphisms but related to the presence of asthma in a Hong Kong Chinese population. 相似文献
72.
TLR4 Asp299Gly、Thr399Ile基因多态性对变应性哮喘的发病及IgE水平的影响 总被引:3,自引:0,他引:3
目的 探讨TLR4 (toll likereceptor 4 )Asp2 99Gly、Thr399Ile基因多态性对变应性哮喘的发病和血浆IgE水平的影响。方法 利用聚合酶链反应 限制性片段长度多态性分析技术 (PCR RFLP) ,对 1 97例变应性哮喘患者和 1 5 6例健康人进行TLR4的Asp2 99Gly、Thr399Ile两位点的基因型检测。同时利用免疫发光法检测血浆IgE的水平。结果 1 97例变应性哮喘患者TLR4基因Asp2 99Gly位点Asp Asp、Asp Gly和Gly Gly的基因型频率为 0 .81 7、0 .1 4 7和 0 .0 36 ,与正常对照组相比差异无统计学意义 (χ2 =0 .0 32 ,P =0 .984 ) ;但变应性哮喘患者Gly Gly、Asp Gly基因型血浆总IgE对数值 ( x±s:2 .6 1 5± 0 .6 0 0 1 ,n =36 )与Asp Asp基因型血浆总IgE对数值 ( x±s:2 .2 4 0± 0 .6 894 ,n =1 6 1 )相比较高 ,差异有统计学意义 (P =0 .0 0 2 )。TLR4基因Thr399Ile位点Thr Thr、Thr Ile和Ile Ile的基因型频率为 0 .970、0 .0 2 0和 0 .0 1 0 ,与正常对照组相比差异无统计学意义 (χ2 =0 .6 2 0 ,P =0 .733) ;变应性哮喘患者Ile Ile、Thr Ile基因型血浆总IgE对数值 ( x±s:2 .4 1 7± 0 .4 4 2 3,n =6 )与Thr Thr基因型血浆总IgE对数值 ( x±s:2 .30 5± 0 .6 94 9,n =1 91 )相比差异无统计学意义 (P =0 .5 71 )。 相似文献
73.
Sandrine Cappellesso Jean-Fran?ois Valentin Bruno Giraudeau Marie-Denise Boulanger Azmi Al-Najjar Mathias Büchler Jean-Michel Halimi Hubert Nivet Pierre Bardos Yvon Lebranchu Hervé Watier 《Nephrology, dialysis, transplantation》2004,19(2):439-443
BACKGROUND: Genetic factors other than HLA have been reported to be associated with the outcome of organ transplantations. Because binding of FasL to its receptor Fas could play an important role in tubulitis and in the death of graft tubular epithelial cells during kidney allograft rejection, a gene polymorphism recently identified in position -671 in the promoter of the TNFRSF6 gene coding for Fas was investigated in donors. METHODS: A case-control study was performed within a cohort of non-hyperimmunized adult patients who had received cadaveric kidney transplants based on the occurrence or absence of acute cellular rejection in the first 6 months after renal transplantation. Each recipient from the acute rejection group (n = 35) was matched for age (+/- 5 years) and number of HLA-DR mismatches with two recipients within the non-acute rejection group (n = 70). RESULTS: The TNFRSF6-GG genotype was more frequent in donors in the group without rejection episodes. In contrast, patients who received a kidney from a TNFRSF6-A carrier were more likely to experience acute rejection episodes (relative risk nearly 2.1). CONCLUSION: This study suggests that donor TNFRSF6 polymorphism directly or indirectly influences acute kidney rejection episodes. 相似文献
74.
75.
76.
胃癌高系家族成员胃蛋白酶原C基因多态性及其诊断意义的探讨 总被引:1,自引:0,他引:1
采用限制性酶切片段长度多态性分析法,检测在胃癌高发区庄河检出的19例胃癌高系家族成员胃蛋白酶原C基因多态性,发现三种常见片段及一种稀有片段。对其中4例携带稀有片段的受检者进行了胃镜追踪观察,2.5年后发现1例早期胃癌。本文对此作了初步探讨。 相似文献
77.
SNP及其在畜牧业中的应用前景 总被引:4,自引:0,他引:4
张利平 《国外畜牧学(草食家畜)》2003,(3):30-32
SNP(single nucleotide polymorphisns-单核苷酸多态性)是继限制性片段长度多态性和微卫星之后,新发展起来的第3代分子标记。已成为一类新的遗传标记,广泛应用于基因定位、克隆和遗传多样性研究。本文介绍了SNP的特性、检测方法及其在畜牧业研究生产中的广泛利用前景。并提出了SNP研究中遇到的一些问题。 相似文献
78.
L. Cheng †‡ T. Enomoto§ T. Hirota† M. Shimizu † N. Takahashi† M. Akahoshi† A. Matsuda† Y. Dake§ S. Doi¶ K. Enomoto A. Yamasaki S. Fukuda X.-Q. Mao J. M. Hopkin M. Tamari† T. Shirakawa † 《Clinical and experimental allergy》2004,34(8):1192-1201
BACKGROUND: A recent report provided evidence that a disintegrin and metalloprotease domain 33 (ADAM33), a member of the ADAM family, is a novel susceptibility gene in asthma linked to bronchial hyper-responsiveness. However, there has been no investigation of the genetic role of ADAM33 variants in nasal allergy. OBJECTIVE: The purpose of this study was to test the association between ADAM33 polymorphisms and Japanese cedar pollinosis (JCPsis), a most common seasonal allergic rhinitis in Japan. METHODS: We conducted a case-control association study among a Japanese population, involving 95 adult individuals with JCPsis and 95 normal healthy controls. A total of 22 single-nucleotide polymorphisms (SNPs) in ADAM33 were genotyped using PCR-based molecular methods. RESULTS: Six SNPs of ADAM33 gene, three in introns (7575G/A, 9073G/A and 12540C/T) and three in the coding region (10918G/C, 12433T/C and 12462C/T), were strongly associated with JCPsis (P = 0.0002-0.022 for absolute allele frequencies) and most of the SNPs were in linkage disequilibrium with each other. A higher frequency of the common alleles of these SNPs was noted for the subjects with JCPsis in comparison with healthy controls. We also identified a haplotype associated with the disease susceptibility. In addition, associations were found between ADAM33 polymorphisms and various cedar pollinosis phenotypes including clinical severity, eosinophil counts in nasal secretion and allergen-specific IgE levels in sera, but not total serum IgE levels. CONCLUSION: These results indicate that polymorphisms in the ADAM33 gene are associated with susceptibility to allergic rhinitis due to Japanese cedar pollen, but the functional relationship still needs clarification. 相似文献
79.
T. Iwanaga †‡ A. McEuen† A. F. Walls† J. B. Clough† T. P. Keith§ S. Rorke† S. J. Barton† S. T. Holgate† J. W. Holloway † 《Clinical and experimental allergy》2004,34(7):1037-1042
BACKGROUND: Mast cell chymase has the potential to be an important mediator of inflammation and remodelling in the asthmatic lung. Previous studies have examined association between promoter polymorphism of the chymase gene (CMA1) and allergic phenotypes but the significance of this polymorphism is unclear. We have examined association of a CMA1 variant in relation to asthma in a large UK Caucasian family cohort. METHODS: A polymorphism of the CMA1 gene promoter (-1903G/A) was genotyped in 341 asthmatic families and in 184 non-asthmatic adults recruited from the UK PCR-RFLP based genotyping. Association with asthma diagnosis, atopy, specific and total IgE, and atopy and asthma severity was examined. RESULTS: Case-control studies did not reveal a significant difference in allele frequency between asthmatics and controls. A significant association was found between CMA1 genotypes and total IgE levels in subjects with self-reported eczema that remained significant after correction for multiple testing (median total serum IgE GG 297 kU/L, GA 144 kU/L, AA 48.4 kU/L, Pc=0.0032). CONCLUSION: These data suggest that CMA1 promoter polymorphism does not contribute to asthma susceptibility or severity but may be involved in regulating IgE levels in patients with eczema. 相似文献
80.
Characterization of a functional promoter polymorphism of the human tryptophan hydroxylase 2 gene in serotonergic raphe neurons. 总被引:2,自引:0,他引:2