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Laki J Kiszel P Vatay A Blaskó B Kovács M Körner A Madácsy L Blatniczky L Almássy Z Szalai C Rajczy K Pozsonyi E Karádi I Fazakas A Hosszúfalusi N Pánczél P Arason GJ Wu YL Zhou B Yang Y Yu CY Füst G 《Molecular immunology》2007,44(4):648-655
Previously we reported on strong linkage disequilibrium (LD) between the mono-S-C4B-RCCX module (mono-S) and the TNF2 allele (both known constituents of the 8.1 ancestral haplotype (8.1 AH)) in two Caucasian populations. The gene for the receptor of advanced glycation endproducts (RAGE) is encoded between the RCCX module and the HLA class II genes in the central MHC region. In order to assess the relationship between the promoter polymorphisms of the RAGE gene and the 8.1 AH, we performed a family study in eight informative families affected with type 1 diabetes mellitus; haplotypes of a RAGE promoter SNP (-429T>C) with the HLA-DQ2, -DR-3(17) and TNF2 alleles, as well as the mono-S genotype were determined. A similar analysis was performed in 82 unrelated patients with type 1 diabetes mellitus, and in unrelated healthy individuals of three different Caucasian populations (Hungarians, Ohioian females, Icelandics). In the diabetic patients clinical correlations were also investigated. Out of the 32 paternal and maternal chromosome 6 from the eight families, 15 different MHC haplotypes were found. Haplotypes containing at least three of the known constituents of the 8.1 AH (HLA-DQ2, -DR17, mono-S, TNF2) were always linked to the RAGE -429C allele. The RAGE -429C allele exhibited highly significant (p<0.0001) LD coefficients to known constituents of the 8.1 AH both in healthy persons and patients with type 1 diabetes. In the group of patients with diabetes we found significantly (p=0.013) higher maximal hemoglobinA1C concentration in the carriers of the RAGE -429C allele, this trait, however was not linked to the 8.1 AH. Our present findings indicate that the RAGE -429C allele can be considered as a candidate member of the 8.1 AH. The results also reveal a spectrum of recombinant MHC haplotypes in addition to the conserved ancestral haplotypes. 相似文献
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Juan J. Carrero Fridtjof Thomas Kristóf Nagy Fatiu Arogundade Carla M. Avesani Maria Chan Michal Chmielewski Antonio C. Cordeiro Angeles Espinosa-Cuevas Enrico Fiaccadori Fitsum Guebre-Egziabher Rosa K. Hand Adriana M. Hung Talat A. Ikizler Lina R. Johansson Kamyar Kalantar-Zadeh Tilakavati Karupaiah Bengt Lindholm Csaba P. Kovesdy 《Journal of renal nutrition》2018,28(6):380-392
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Tibor Kovács Tibor Vas Csaba P. Kövesdy Péter Degrell Györgyi Nagy Zsuzsanna Rékási István Wittmann Judit Nagy 《International urology and nephrology》2014,46(11):2175-2182
Purpose
The role of tonsillectomy in the treatment of IgA nephropathy in Caucasian patients is controversial.Methods
A retrospective cohort study was conducted in 264 patients with biopsy-proven primary IgA nephropathy to examine the association between tonsillectomy and long-term renal survival, defined as the incidence of estimated glomerular filtration rates (eGFRs) of ≤30 ml/min/1.73 m2 or end-stage renal disease (the composite of initiation of dialysis treatment or renal transplantation). The association of tonsillectomy with renal end-points was examined using the Kaplan–Meier method and Cox models.Results
One-hundred and sixty-six patients did not undergo tonsillectomy (Group I, follow-up 130 ± 101 months) and 98 patients underwent tonsillectomy (Group II, follow-up 170 ± 124 months). The mean renal survival time was significantly longer for both end-points between those patients who underwent tonsillectomy (Group II) versus patients without tonsillectomy (Group I) (p < 0.001 and p = 0.005). The mean renal survival time was significantly longer for both end-points between those patients who had macrohaematuric episodes versus patients who had no macrohaematuric episodes (p = 0.035 and p = 0.019). Tonsillectomy, baseline eGFR and 24-h proteinuria were independent risk factors for both renal end-points.Conclusion
Tonsillectomy may delay the progression of IgA nephropathy mainly in IgA nephropathy patients with macrohaematuria. Prospective investigation of the protective role of tonsillectomy in Caucasian patients is needed. 相似文献67.
Peristera Paschou Dongmei Yu Gloria Gerber Patrick Evans Fotis Tsetsos Lea K. Davis Iordanis Karagiannidis Jonathan Chaponis Eric Gamazon Kirsten Mueller‐Vahl Manfred Stuhrmann Monika Schloegelhofer Mara Stamenkovic Johannes Hebebrand Markus Noethen Peter Nagy Csaba Barta Zsanett Tarnok Renata Rizzo Christel Depienne Yulia Worbe Andreas Hartmann Danielle C. Cath Cathy L. Budman Paul Sandor Cathy Barr Thomas Wolanczyk Harvey Singer I‐Ching Chou Marco Grados Danielle Posthuma Guy A. Rouleau Harald Aschauer Nelson B. Freimer David L. Pauls Nancy J. Cox Carol A. Mathews Jeremiah M. Scharf 《Annals of neurology》2014,76(2):310-315
Tourette syndrome (TS) is a neurodevelopmental disorder with a complex genetic etiology. Through an international collaboration, we genotyped 42 single nucleotide polymorphisms (p < 10−3) from the recent TS genomewide association study (GWAS) in 609 independent cases and 610 ancestry‐matched controls. Only rs2060546 on chromosome 12q22 (p = 3.3 × 10−4) remained significant after Bonferroni correction. Meta‐analysis with the original GWAS yielded the strongest association to date (p = 5.8 × 10−7). Although its functional significance is unclear, rs2060546 lies closest to NTN4, an axon guidance molecule expressed in developing striatum. Risk score analysis significantly predicted case–control status (p = 0.042), suggesting that many of these variants are true TS risk alleles. Ann Neurol 2014;76:310–315 相似文献
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John J. Sim Jiaxiao Shi Csaba P. Kovesdy Kamyar Kalantar-Zadeh Steven J. Jacobsen 《Journal of the American College of Cardiology》2014