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排序方式: 共有10000条查询结果,搜索用时 62 毫秒
971.
972.
Dobrovolny R Dvorakova L Ledvinova J Magage S Bultas J Lubanda JC Elleder M Karetova D Pavlikova M Hrebicek M 《Journal of molecular medicine (Berlin, Germany)》2005,83(8):647-654
We have identified 21 different -galactosidase A gene (GLA) mutations in 22 unrelated Czech and Slovak families with Fabry disease. Eleven of these mutations were novel (point mutations D93N, A135V, D155H, G171R, Q280K, G360S, Q330X, splicing errors c.194ins14, c.801ins36 and deletions c.674_732del59, g.3405_6021del2617). Genotyping of family members for family-specific mutations revealed 55 heterozygotes that manifested clinical symptoms of different severity. To examine the contribution of X-inactivation skewing to disease manifestation in Fabry heterozygotes, we have adopted the Mainz severity scoring scheme and compared the score values with the X-inactivation status in 39 carriers in an age-dependent manner. The age-score trendline of Fabry females who had a predominantly inactivated X-chromosome bearing a wild-type GLA allele (10 of 38 females) was markedly steeper than in the rest of the cohort. One female carrier with an inactivated mutated allele had a low score value when compared to the other heterozygotes of the same age. These data suggest that X-inactivation is indeed a major factor determining the severity of clinical involvement in Fabry heterozygotes. There was a statistically significant difference between the severity score values of heterozygotes with random and non-random X-chromosome inactivation at the 5% level of significance. Further studies will show if the degree of the wildtype allele inactivation will be useful as a predictive marker of severity of phenotype in Fabry heterozygotes. Although the correlation between X-inactivation skewing and presentation of the disease in Fabry heterozygotes has previously been suggested in the literature, this report is among the first attempts to examine this relationship systematically. 相似文献
973.
Results of unrelated cord blood transplant in fanconi anemia patients: risk factor analysis for engraftment and survival. 总被引:2,自引:0,他引:2
Eliane Gluckman Vanderson Rocha Irina Ionescu Marc Bierings Richard E Harris John Wagner Joanne Kurtzberg Martin A Champagne Carmem Bonfim Marco Bittencourt Philip Darbyshire Manuél-Nicolas Fernandez Franco Locatelli Ricardo Pasquini 《Biology of blood and marrow transplantation》2007,13(9):1073-1082
We retrospectively analyzed results of unrelated cord blood transplantation (UCBT) in 93 Fanconi anemia (FA) patients. Median age at transplantation was 8.6 years (1-45). The units transplanted were HLA-A, -B, or -DRB1 identical in 12 cases, 1 HLA mismatch in 35 cases, and 2 or 3 HLA differences in 45 cases. The median number of nucleated cells (NC) and CD34+ cells infused of recipient weight was 4.9x10(7)/kg and 1.9x10(5)/kg, respectively. Participating centers selected the preparative regimen of their choice, in 57 patients (61%), it included Fludarabine. Graft-versus-host disease (GVHD) prophylaxis consisted mostly of cyclosporine with prednisone. Cumulative incidence (CI) of neutrophil recovery was 60+/-5% at day +60. In multivariate analysis, Fludarabine containing regimen and NC infused>or=4.9x10(7)/kg were associated with higher probability of recovery. CI of grade II-IV acute and of chronic GVHD (aGVHD, cGVHD) was 32%+/-5% and 16%+/-4%, respectively. Overall survival (OS) was 40%+/-5%. In multivariate analysis, factors associated with favorable outcome were use of Fludarabine in the conditioning regimen, number of NC infused>or=4.9x10(7)/kg, and negative cytomegalovirus (CMV) serology in the recipient. In conclusion, factors easily modifiable such as donor selection and a Fludarabine-containing regimen can considerably improve survival in FA patients given a UCBT. These data are the basis for designing prospective protocols. 相似文献
974.
Estimating relative physical workload using heart rate monitoring: a validation by whole-body indirect calorimetry 总被引:1,自引:0,他引:1
Garet M Boudet G Montaurier C Vermorel M Coudert J Chamoux A 《European journal of applied physiology》2005,94(1-2):46-53
Measuring physical workload in occupational medicine is fundamental for risk prevention. An indirect measurement of total and relative energy expenditure (EE) from heart rate (HR) is widely used but it has never been validated. The aim of this study was to validate this HR-estimated energy expenditure (HREEE) method against whole-body indirect calorimetry. Twenty-four-hour HR and EE values were recorded continuously in a calorimetric chambers for 52 adult males and females (19–65 years). An 8-h working period was retained, comprising several exercise sessions on a cycloergometer at intensities up to 65% of the peak rate of oxygen uptake. HREEE was calculated with reference to cardiac reserve. A corrected HREEE (CHREEE) was also calculated with a modification to the lowest value of cardiac reserve. Both values were further compared to established methods: the flex-HR method, and the use of a 3rd order polynomial relationship to estimate total and relative EE. No significant difference was found in total EE when measured in a calorimetric chamber or estimated from CHREEE for the working period. A perfect linear and identity relationship was found between CHREEE and energy reserve values for intensities ranging from 15% to 65%. Relative physical workload can be accurately assessed from HR recordings when expressed in CHREEE between 15% to 65%, and EE can be accurately estimated using the CHREEE method. 相似文献
975.
The 505 amino acid L1 protein of the human papillomavirus type 11 (HPV 11) is the major capsid polypeptide that has been shown to self-assemble into virus-like particles (VLPs) in vivo and in vitro. While L1 is essential for viral infection, expression studies in mammalian cells have been hampered by different codon preference between the virus and its host. To optimize L1 gene expression in mammalian cells, we converted wild-type HPV 11 L1 (11 L1wt) codons to those more common in human genes. The modified HPV 11 L1 gene (11 L1h) generated protein levels that were at least 100-fold higher than those of wild-type HPV 11 L1, while no obvious differences were seen in the level of mRNA. HPV 11 L1 protein was detected in mammalian epithelial and fibroblast cells, by immunoblotting and indirect immunofluorescence (IIF) techniques. Unlike the situation in situ, IIF revealed the presence of L1 mainly at perinuclear sites. Virus-like particles assembled intranuclearly only to a low extent, as indicated by transmission electron microscopy. DNA vaccination using the HPV 11 L1h gene yielded a drastic increase in L1-specific antibody production in mice as compared to immunization with the wild-type gene. 相似文献
976.
Among haplorhine primates, the highly specialized Callitrichidae (marmosets and tamarins) are expected to have comparatively high reproductive costs, a feature that might be related to the evolution of a cooperative breeding system. Costs of reproduction in captivity were investigated on the basis of changes in energy intake and body weight during pregnancy and lactation in pair-living female and male common marmosets (Callithrix jacchus). The experimental design had little effect on carrying behavior, food intake, and body weight of adults, but a negative transitory effect of offspring body weight. Increased energetic requirements during pregnancy did not result in a higher energy intake in females. During lactation, females increased their energy intake up to 100% and gradually lost weight, suggesting even higher costs. Extensive carrying behavior by males, on the other hand, did not result in an increased energy intake in males, or in changes in male body weight. It is suggested that, at least in captivity, increased energetic demands during reproduction are reduced by behavior allocations towards energetically less expensive behaviors. 相似文献
977.
978.
Martin Diener Marko Bertog Michael Fromm Erwin Scharrer 《Pflügers Archiv : European journal of physiology》1996,432(2):293-300
The effect of cell swelling induced by hypotonic media was studied in segments of rat small intestine. In the Ussing chamber,
exposure to a hypotonic medium caused a decrease in short-circuit current (I
sc) and potential difference (V
ms) in the jejunum, whereas the ileum responded with an increase in I
sc and V
ms. The transition from one pattern to the other was located about in the middle of the small intestine. Tissue conductance
decreased in both segments, probably due to a reduction of paracellular shunt conductance induced by the cell swelling. Voltage
scanning experiments revealed that the observed decrease in total tissue conductance in the ileum was caused solely by a decrease
in local conductance in the villus region while the crypt conductance did not change, suggesting that the decrease in paracellular
conductance of the crypts is compensated by an increase in cellular conductance. The response in both segments was dependent
on the presence of Cl− and was blocked by the Cl− channel blocker 5-nitro-2-(3-phenylpropylamino)-benzoate (NPPB). It was not affected by the neurotoxin tetrodotoxin. In the
jejunum the swelling-induced decrease in I
sc was reduced in the presence of the cyclooxygenase inhibitor, indomethacin, or the lipoxygenase inhibitor, nordihydroguaiaretic
acid. In the ileum the Cl− secretion induced by hypotonicity was blocked by the K+ channel blocker quinine and was reversed into a decrease in I
sc when serosal Ca2+ was zero. We conclude that the observed volume regulatory changes are initiated in the jejunum by an eicosanoid-mediated
opening of basolateral Cl− channels and in the ileum by a Ca2+-mediated opening of K+ channels which enhances apical Cl− efflux.
Received: 27 June 1995/Received after revision: 8 December 1995/Accepted: 28 December 1995 相似文献
979.
Wim H. J. P. Linssen Martin J. Van den Bent Han G. Brunner Petra J. E. Poels 《American journal of medical genetics. Part A》1994,51(1):81-82
We report on 3 sibs (2 males and one female) with sensorineural deafness. The presence of ovarian dysgenesis in the girl suggested a diagnosis of Perrault syndrome. In addition our patients have a sensory polyneuropathy and amelogenesis imperfecta. Two of the patients have mild mental retardation, fine choreatic movements, and dyspraxia. It is discussed whether these findings are part of a separate clinical entity or should be included within the spectrum of the Perrault syndrome. © 1994 Wiley-Liss, Inc. 相似文献
980.
C T Healy L N Martin E D Roberts A S Rubin 《Laboratory investigation; a journal of technical methods and pathology》1989,60(3):462-470
A novel method which avoids the use of complete Freund's adjuvant (which can be arthritogenic) has been used to induce collagen II arthritis in both primates and mice. A solution of bovine type II collagen was dried onto nitrocellulose filters and implanted in the peritoneal cavity of experimental animals. Primate and mouse joints were scored by clinical as well as gross and microscopic parameters. The polyarthritis that developed in both rhesus monkeys (Macaca mulatta) and DBA/1 LAC J mice was characterized by synovial cell proliferation and endothelial cell hyperplasia, and by a perivascular mononuclear cell infiltrate of the synovium. Primates were analyzed further for anti-type II collagen antibody titers and delayed type hypersensitivity to type II collagen. Anti-type II collagen serum titers appeared to be unrelated to the disease pathology; the primates did not display delayed-type hypersensitivity to type II collagen. Control monkeys and mice implanted with collagen-free nitrocellulose filters were normal upon clinical and histopathological analysis. This protocol offers the advantage of the induction of arthritis due solely to immunization with antigen. 相似文献