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991.
MRI in the assessment of growth arrest 总被引:2,自引:0,他引:2
OBJECTIVE: To compare MRI with X-ray tomography in the assessment of bone bridges across the growth plate. MATERIALS AND METHODS: The investigation consisted of two parts. (1) Eleven children with 13 epiphyses suspected of physeal growth arrests were examined with conventional X-ray tomography and MRI. The bar was post-traumatic in eight children, postinfectious in two and due to a congenital, operated pes equinovarus in one. Three blinded radiologists separately evaluated the examinations retrospectively. (2) The images of four children with known physeal bars in the ankle were mixed with 36 normal examinations obtained 1-year after trauma and evaluated blindly by three radiologists. RESULTS: In 5 of 13 epiphysis, the bony bridge was considered smaller on MRI than on X-ray tomography, in 7 of 13 it was considered equal, while it was larger only in one. The interobserver agreement (weighted kappa) was 0.8 (very good) for MRI, 0.76 (good) for X-ray tomography and 0.60 (moderate) for radiographs. The four bony bridges were easily detected on MRI. CONCLUSIONS: Compared to MRI, the size of bridges was estimated larger by tomography in about half of the patients. 相似文献
992.
Bauer J Schumann H Sönnichsen K Tomaske M Bosk A Bruckner-Tuderman L Rassner G Garbe C 《European journal of pediatrics》2002,161(12):672-679
The term epidermolysis bullosa (EB) encompasses a heterogeneous group of genodermatoses, characterised by fragility and blistering of the skin, often associated with extracutaneous manifestations. The clinical picture comprises severe subtypes with lethal outcome in the first years of life as well as milder subtypes with localised blistering or minimal symptoms confined exclusively to nail or teeth abnormalities. We present the case of a male infant, who was born with a few bullae and rapidly developed extensive blistering of the skin. The disease was complicated by painful erosions of the oral mucosa, refused ingestion, and recurrent infections. The child died at the age of 4 months because of cardiac failure due to severe sepsis. Antigen mapping of a skin biopsy showed a split within the lamina lucida of the epidermal basement membrane zone and junctional epidermolysis bullosa (JEB) was diagnosed within the first 3 weeks of life. Markedly reduced staining for laminin 5 indicated the Herlitz type of JEB (OMIM 226700), which could be confirmed by mutation analysis in the LAMB3 gene, showing homozygous nonsense mutations. CONCLUSION: early antigen mapping using antibodies against the proteins affected in epidermolysis bullosa, is a useful tool providing early mutation analysis and valuable prognostic information needed for adequate therapeutic strategies. The recently published literature on current diagnostic procedures and the revised classification system for inherited epidermolysis bullosa aim towards a better understanding of the disease. 相似文献
993.
994.
GRACILE syndrome (growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death; OMIM 603358) is a rare metabolic disorder with autosomal recessive mode of inheritance. So far it has been diagnosed only in patients with Finnish ancestors. The GRACILE locus has been positioned to a restricted region of chromosome 2q33-37, but the causative gene remains to be identified. The ABCB6 gene, involved in iron homeostasis, mitochondrial respiratory function, and maintenance of the stability of mitochondrial DNA, has been positioned to this same chromosomal region, and advocated in literature as a highly probable candidate gene for the syndrome on both functional and positional grounds. We carried out sequence and quantitative expression analyses to detect potential disease-associated mutations in the ABCB6 gene. No mutations in the coding region of ABCB6 were found, and the expression level of ABCB6 in patient fibroblasts was found to be comparable to controls. Haplotype analysis of the critical DNA region provided evidence for positional exclusion also. Based on these data, ABCB6 is not the causative gene for GRACILE syndrome. 相似文献
995.
The course of pregnancy and delivery and the use of maternal healthcare services after standard IVF in Northern Finland 1990-1995 总被引:1,自引:0,他引:1
Koivurova S Hartikainen AL Karinen L Gissler M Hemminki E Martikainen H Tuomivaara L Järvelin MR 《Human reproduction (Oxford, England)》2002,17(11):2897-2903
BACKGROUND: The objective of this study was to evaluate the course of pregnancy and delivery and the use of maternal healthcare after IVF. METHODS: This population-based cohort study included all women who had undergone IVF treatment in Northern Finland leading to delivery in 1990-1995 (n = 225) and control pregnancies derived from the Finnish Medical Birth Register (n = 671) matched for sex of the child, year of birth, area, maternal age, parity, social class and fetal plurality. The analyses were stratified by plurality. Outcome measures were pregnancy complications, mode of delivery, gestational length and the level of use of antenatal care. RESULTS: The results showed an increased risk for vaginal bleeding throughout pregnancy [relative risk (RR) 4.1, 95% confidence interval (CI) 2.5-6.7 for singletons; RR 6.9, 95% CI 2.5-19.2 for twins], threatened preterm birth (RR 1.8, 95% CI 1.1-2.9, singletons) and intrahepatic cholestasis of pregnancy (RR 3.8, 95% CI 1.0-15.0, singletons) in IVF pregnancies, as well as an increase in the use of specialized antenatal care. CONCLUSIONS: IVF pregnancies following standard, fresh ova IVF treatments are at greater risk of obstetric problems than spontaneously conceived pregnancies, and hence IVF mothers use more specialized antenatal care than others. The pregnancy complications after IVF are likely to be due to maternal characteristics regarding infertility and to a high incidence of multiple pregnancies. 相似文献
996.
Peltonen JE Tikkanen HO Ritola JJ Ahotupa M Rusko HK 《Aviation, space, and environmental medicine》2001,72(10):904-911
BACKGROUND: Oxygen uptake (VO2) on-kinetics is decelerated in acute hypoxia and accelerated in hyperoxia in comparison with normoxia during submaximal exercise. However, the effects of fraction of oxygen in inspired air (FIO2) on VO2 kinetics during maximal exercise are unknown. HYPOTHESIS: The effects of FIO2 on VO2 on-kinetics during maximal exercise are similar to submaximal exercise. METHODS: There were 11 endurance athletes who were studied during maximal 7-min cycle ergometer exercise in hyperoxia (FIO2 0.325), hypoxia (FIO2 0.166) and normoxia (FIO2 0.209). The individual VO2 data were fit to a curve by using a three exponential model. RESULTS: In hypoxia, VO2 on-response amplitude during Phase 2 (approximately 20-100 s from the beginning of exercise) was lower (p < 0.05) when compared with hyperoxia; time constant of VO2 Phase 3 (beyond approximately 100 s after beginning of exercise) was shorter (p < 0.05) when compared with hyperoxia; and mean response time (MRT, O-63%) for VO2peak was shorter (p < 0.05) when compared with normoxia and hyperoxia. VO2peak was higher in hyperoxia (4.80 +/- 0.48 L x min(-1), p < 0.05) and lower in hypoxia (4.03 +/- 0.46 L x min(-1), p < 0.05) than in normoxia (4.36 +/- 0.44 L x min(-1)). CONCLUSIONS: Moderate hypoxia or hyperoxia do not affect VO2 time constants at the onset of maximal exercise. However, MRT for VO2peak is shortened in hypoxia. It is suggested that the differences in VO2peak and power output during the latter half of the test and the point that FIO2 was modified only moderately might explain most of the discrepancy with the previous studies. 相似文献
997.
Murugesan N Tellew JE Gu Z Kunst BL Fadnis L Cornelius LA Baska RA Yang Y Beyer SM Monshizadegan H Dickinson KE Panchal B Valentine MT Chong S Morrison RA Carlson KE Powell JR Moreland S Barrish JC Kowala MC Macor JE 《Journal of medicinal chemistry》2002,45(18):3829-3835
The ET(A) receptor antagonist (2) (N-(3,4-dimethyl-5-isoxazolyl)-4'-(2-oxazolyl)-[1,1'-biphenyl]-2-sulfonamide, BMS-193884) shares the same biphenyl core as a large number of AT(1) receptor antagonists, including irbesartan (3). Thus, it was hypothesized that merging the structural elements of 2 with those of the biphenyl AT(1) antagonists (e.g., irbesartan) would yield a compound with dual activity for both receptors. This strategy led to the design, synthesis, and discovery of (15) (4'-[(2-butyl-4-oxo-1,3-diazaspiro[4.4]non-1-en-3-yl)methyl]-N-(3,4-dimethyl-5-isoxazolyl)-2'-[(3,3-dimethyl-2-oxo-1-pyrrolidinyl)methyl]-[1,1'-biphenyl]-2-sulfonamide, BMS-248360) as a potent and orally active dual antagonist of both AT(1) and ET(A) receptors. Compound 15 represents a new approach to treating hypertension. 相似文献
998.
The relative roles of intragenic polymorphisms of the vitamin d receptor gene in lumbar spine degeneration and bone density 总被引:10,自引:0,他引:10
Videman T Gibbons LE Battié MC Maravilla K Vanninen E Leppävuori J Kaprio J Peltonen L 《Spine》2001,26(3):E7-E12
STUDY DESIGN: A retrospective cohort study. OBJECTIVES: To compare the magnitudes of the associations of TaqI polymorphisms of the vitamin D receptor gene with bone density and lumbar spine degeneration in the same sample. SUMMARY OF BACKGROUND DATA: Vitamin D receptor gene variations are associated with osteoporosis, osteoarthritis, and disc degeneration. Their role in these conditions remains poorly understood. METHODS: Bone density of the spine and femur were determined through DEXA, and lumbar disc degeneration was determined from magnetic resonance imaging assessments of signal intensity, disc narrowing, bulging, anular tears, herniations, and osteophytes. Associations between these measures and TaqI polymorphisms of the coding region of the Vitamin D receptor locus were examined in a population-based sample of 142 men. RESULTS: The strongest associations were with signal intensity and anular tears, which were worse for the subjects with tt genotypes than for those with TT genotypes in the L4-S1 spine discs. Conversely, the prevalences of disc bulges and osteophytes were lowest for the tt genotype. Bone density, disc height, and herniations did not differ significantly by genotype. CONCLUSIONS: The strongest association of Vitamin D receptor TaqI polymorphisms with degeneration in nonmineralized connective tissues suggests that the underlying mechanism of TaqI polymorphisms is not specific to bone. This study demonstrated for the first time that those with the tt genotype had more anular tears than those with the TT genotype, a finding that should stimulate further analyses of this gene in conditions that result in back pain. The apparent discrepancies of the associations of the tt genotype with lower signal intensity and more anular tears, but less bulges and osteophytes, could be explained if bulging and osteophytes primarily represented remodeling related to lifetime physical loading. 相似文献
999.
Effect of Sucrose on Collagen Metabolism in Keloid, Hypertrophic Scar, and Granulation Tissue Fibroblast Cultures 总被引:5,自引:0,他引:5
Sucrose has been used to treat wounds with excellent results and with minimal abnormal scarring. In this study the effects
of sucrose on collagen metabolism in fibroblast culture was evaluated. Sucrose (5.5, 15, or 25 mM) was added to granulation
tissue, hypertrophic scar, and keloid fibroblast cultures. mRNA levels and procollagen aminopropeptides for type I and III
collagens in cell culture medium were studied. Sucrose decreased mRNA levels for proα1(I) and proα1(III) collagens in fibroblast
cultures derived from hypertrophic scar and keloid. In normal granulation tissue fibroblast cultures, 5.5 mM sucrose increased
mRNA levels for proα1(I) and proα1(III) collagen, and higher concentrations decreased them. The synthesis of type I collagen
decreased dose-dependently in all cell strains, whereas the synthesis of type III collagen decreased only in granulation tissue
fibroblasts. To conclude, in vitro high concentrations of sucrose down-regulate both collagen gene expression and synthesis
in normal granulation tissue fibroblasts, whereas in fibroblasts derived from abnormal scar sucrose down-regulates only type
I collagen gene expression and synthesis, changing the pattern of collagen metabolism toward normal. 相似文献
1000.
Marko Määttä Osmo Kari Taina Tervahartiala Sirje Peltonen Marjatta Kari Matti Saari Timo Sorsa 《Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie》2006,244(8):957-962