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101.
102.
A clinical and genetic study of 56 Saudi Wilson disease patients: identification of Saudi-specific mutations 总被引:3,自引:0,他引:3
M. Al Jumah R. Majumdar S. Al Rajeh A. Awada A. Al Zaben I. Al Traif A. R. Al Jumah Z. Rehana 《European journal of neurology》2004,11(2):121-124
Wilson disease (WD) is a hereditary disorder, with recessive transmission and genetic heterogeneity. Several mutations of ATP7B, the gene underlying WD, were reported in many ethnic groups. In this study, mutation screening in ATP7B of 56 Saudi Arabian WD patients was undertaken. The clinical data of all patients were recorded. The entire ATP7B coding sequence, including intron-exon boundaries were screened for mutation by the polymerase chain reaction (PCR)-based mutation detection technique and DNA sequencing. Thirty-nine patients were symptomatic at presentation and 17 subjects were pre-symptomatic siblings of affected patients. Fourteen patients had neurological, 11 patients had mixed (hepatic and neurological), and 14 patients had hepatic presentations. Family history suggestive of WD was present in 72% of cases and 68% had consanguineous parents. Genetic analysis showed disease-causing mutations in three exons (exons 8, 19 and 21) of the ATP7B gene in 28 patients (50%). Mutations in exons 21 (18 cases) and 19 (one case) were unique for Saudis. This large series of Saudi patients with WD has shown wide variability in the genomic substrate of WD. There is no correlation between genotype and clinical presentation. 相似文献
103.
Lutz Claes Nikola Maurer-Klein Thomas Henke Heinz Gerngross Mark Melnyk Peter Augat 《Journal of orthopaedic research》2006,24(6):1178-1185
The aim of this study was to investigate the effect of a moderate soft tissue trauma to the course of fracture healing in a standardized animal model. Thirty-eight Wistar rats were randomly divided into a fracture group (F, n = 19) and a group with a fracture and a soft tissue trauma (F + STT, n = 19). The fracture and the soft tissue trauma were created using an impact device with a standardized energy. All fractures were stabilized by two Kirschner wires. Three rats were measured for blood flow and sacrificed at days 1, 3, 7, and 14, and seven rats at day 28, from both groups. A three-point bending test was performed on the healed tibia after 28 days. During the first 24 h there was a reduction in blood flow, which was more pronounced in the F + STT group than in the F group. From histological sections, the shape of the callus formation, as well as the tissue distribution of newly formed bone, fibrous cartilage and fibrous connective tissue were determined. Distinctly more periosteal new bone formed and a larger callus formed at days 3 and 7 in group F compared to group F + STT. However, by days 14 and 28, the ossification and overall callus size no longer showed differences between the two groups. A fast recovery of blood flow and callus formation took place in the F + STT group, which led to similar histological and biomechanical results in fracture healing observed after 28 days between the two groups. 相似文献
104.
Abstract Closed suction drainage systems are commonly used in orthopaedic surgery, particularly in joint arthroplasty. The rationale
for the use of drains is a theoretical reduction of wound haematomas and infection. However the benefit of using drains after
total hip or knee arthroplasty is controversial. Several reports have shown that the use of drains does not reduce infection
and morbidity and is an unnecessary and potentially dangerous practice. In fact most studies highlighted that at best their
use appears to make no difference to important clinical outcomes. Recently a metaanalysis raised the question about the usefulness
of closed suction drainage again, concluding that it has no major benefits. The purpose of this study was to review the evidences
available concerning the utility of closed suction drainage outlining that this practice is not supported by clinical evidence. 相似文献
105.
Amputation in elderly and high-risk vascular patients 总被引:1,自引:0,他引:1
Fifty-eight patients underwent lower limb amputation for arterial disease over a 30-month period. Mean age of the patients was 72 years. Cardiopulmonary and metabolic risk factors were present in the majority of the patients. Postoperative one-year and three-year mortality rates were 24, 40, and 76%, respectively. Contralateral amputation was required in one-third of the patients after a mean period of eight months. Only younger and healthier patients returned to a meaningful social life after appropriate prosthetic fitting. In view of the high mortality and morbidity rates, above-knee amputation seems a better choice than below-knee amputation in these elderly and high-risk patients. 相似文献
106.
A quantitative assessment of cross-sectional cortical bone remodeling in the femoral diaphysis following hip arthroplasty was made by direct in vitro measurements of cross-sectional geometric properties. We obtained eight femora from four female cadavers ranging in age from 77 to 96 years. In three cases unilateral uncemented Austin Moore implants were used, and in one case a unilateral cemented Thompson prosthesis had been implanted. The time of implantation in the two specimens where this information could be obtained was greater than 40 months. Sections were made at 12 diaphyseal locations from the superior aspect of the lesser trochanter through the distal diaphysis. Section properties (areas and second moments of area, or area moments of inertia) were determined by tracing photographs of the cross-sections with a digitizer. In this sample of prosthetic femora, we found reductions in both total subperiosteal area (TA) and endosteal area (ENDA) relative to the contralateral unoperated side in most sections distal to the lesser trochanter. The average pairwise reduction in ENDA for this region was 21.1 mm2, reaching statistical significance in one distal diaphyseal section. The average decline in TA in this region was 10.2 mm2. Because the reduction in endosteal dimensions was generally greater than the reduction in subperiosteal dimensions, cortical area (CA) was maintained or increased throughout the distal 80% of this region in prosthetic femora with an average increase in CA of 9.3 mm2, reaching statistical significance in one mid-diaphyseal section. A completely different pattern of remodeling occurred in the two most proximal sections through the lesser trochanter and base of the femoral neck.(ABSTRACT TRUNCATED AT 250 WORDS) 相似文献
107.
N. R. Saunders A. Deal G. W. Knott Z. M. Varga† J. G. Nicholls † 《Clinical and experimental pharmacology & physiology》1995,22(8):518-526
1. Repair and recovery following spinal cord injury (complete spinal cord crush) has been studied in vitro in neonatal opossum (Monodelphis domestica), fetal rat and in vivo in neonatal opossum. 2. Crush injury of the cultured spinal cord of isolated entire central nervous system (CNS) of neonatal opossum (P4–10) or fetal rats (E15–E16) was followed by profuse growth of fibres and recovery of conduction of impulses through the crush. Previous studies of injured immature mammalian spinal cord have described fibre growth occurring only around the lesion, unless implanted with fetal CNS. 3. The period during which successful growth occurred in response to a crush is developmentally regulated. No such growth was obtained after P12 in spinal cords crushed in vitro at the level of C7–8. 4. In vivo, in the neonatal (P4–8) marsupial opossum, growth of fibres through, and restoration of, impulse conduction across the crush was apparent 1–2 weeks after injury. With longer periods of time after crushing a considerable degree of normal locomotor function developed. 5. By the time the operated animals reached adulthood, the morphological structure of the spinal cord, both in the region of the crush and on either side of the site of the lesion, appeared grossly normal. 6. The results are discussed in relation to the eventual longterm possibility of devising effective treatments for patients with spinal cord injuries. 相似文献
108.
Mayumi Matsuta Yuko Imamura Morimasa Matsuta Saiichi Kon Kohsuke Sasaki 《The Journal of dermatology》1994,21(1):14-19
We have applied DNA flow cytometric analysis to paraffin-embedded tissue sections of primary malignant melanomas. Conventionally, flow cytometric analysis of paraffin-embedded tissue sections has been done by the method of Hedley et al. We added ultrasound treatment to the method of Hedley et al. and a lower value of coefficient of variation was shown. Furthermore, a new technique, fluorescence in situ hybridization with a chromosome-specific repetitive DNA probe, was used for the analysis of chromosomal numerical aberrations in the same paraffin-embedded tissue sections. The DNA flow cytometric analysis showed that in 8 cases six primary malignant melanomas were of the aneuploid pattern and two cases of lentigo maligna (melamona in situ) were of the diploid pattern. By fluorescence in situ hybridization, the two cases with the diploid pattern had spots/nucleus of 1.28 and 1.12, and those with the aneuploid pattern had spots/nucleus from 2.01 to 2.27. Only one nodular melanoma in an aneuploid case showed spots/nucleus of 1.71. These data indicate that fluorescence in situ hybridization with chromosome-specific repetitive DNA probes can serve as a cytogenetic tool for the analysis of interphase nuclei of solid human tumors and may be useful for the study of tumor cell heterogeneity. 相似文献
109.
Summary A series of in vivo experiments were undertaken, relating functional (motor activity, body temperature), dopamine (DA) receptor binding and neurochemical (catecholamine synthesis and utilization, DA release) aspects of the pharmacology of SCH 23390 in the rat.The compound inhibited the locomotor hyperactivity, but not the hypothermia, induced by the potent DA stimulant DP-5,6-ADTN. Interstingly, SCH 23390 simultaneously failed to displace DP-5,6-ADTN from its binding sites in the rat striatum—used as a direct in vivo biochemical index of DA (D-2) receptor interaction. The spontaneous locomotion in non-pretreated rats was likewise inhibited by SCH 23390. The locomotor-suppressive action, but not the DP-5,6-ADTN-displacing capcity of the D-2 blocker haloperidol was significantly enhanced by SCH 23390, suggesting that motility can be suppressed by either enhanced D-1 or D-2 (postsynaptic) receptor blockade, but also that the D-1 and D-2 sites involved may be physically distinct.SCH 23390 only slightly altered in vivo neurochemical of DA synthesis, release and nerve-impulse flow, indicating that, while similar in suppressing dopaminergic behaviour, the D-1 antagonist is less effective than traditional neuroleptics as an activator of DA neuronal feedback mechanisms. The weak increases of DA synthesis and release nonetheless obtained were equal in magnitude (30–40%) in the limbic vs. striatal brain areas; also in this respect, SCH 23390 thus differs from classical neuroleptics, which generally display more marked effects in the striatum than in limbic tissue.No major changes in the in vivo indices of NA synthesis and utilization (or in 5-HT synthesis) were found after SCH 23390 administration, by and large supporting the DA receptor specificity of the compound.In summary, the studies demonstrated that SCH 23390 can offset and accentuate, respectively, behavioural consequences of D-2 receptor stimulation and blockade. Importantly, at the same time no direct interaction at the level of D-2 DA receptor sites in the striatum was detected. Only slight, D-2 antagonist-like, changes in neurochemical indices of dopaminergic activity were observed after D-1 receptor blockade by means of SCH 23390. With regard to DA agonist hypothermia, SCH 23390 was without effect per se, but (at a high dose) attenuated the action of the D-2 antagonist haloperidol. The observations may indicate that the complex interactions between central D-1 and D-2 receptor-controlled mechanisms that influence behaviour, neurochemistry, and possibly autonomic nervous expression, are not identical. 相似文献
110.
A. J. Ferdous S. N. Islam M. Ahsan C. M. Hasan Z. U. Ahmed 《Phytotherapy research : PTR》1992,6(3):137-140
The antibacterial activity of the volatile oil of Nigella sativa seeds was studied against 37 isolates of Shigella dysenteriae 1, Shigella flexneri, Shigella sonnei and Shigella boydii and 10 strains of Vibrio cholerae and Escherichia coli. Most of the strains were clinically resistant to ampicillin, co-trimoxazole and tetracycline. All the strains tested showed promising sensitivity to the volatile oil. The minimum inhibitory concentration (MIC) of the volatile oil for Shigella, Vibrio and Escherichia strains tested was between 50–400 μg/mL. 相似文献