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991.
Conway F. Saylor PhD Cynthia Cupit Swenson Ph.D. Paige Powell Ph.D. 《Child psychiatry and human development》1992,22(3):139-149
This article reports highlights from over 200 parents' observations of their preschoolers' play and verbalizations in the year following Hurricane Hugo. Commonly reported activities included reenactment and discussion of the event in multiple mediums, personification of Hugo, and expression of fears related to storms. Precocious concern for others, insight, and vocabulary were also noted. In these intact, relatively high functioning families, parents seemed able to facilitate their youngsters' adjustment without outside intervention.Portions of this report were presented in earlier form at the 1991 Society for Research in Child Development meeting in Seattle, Washington. 相似文献
992.
Prevalence of hereditary ataxias and spastic paraplegias in Molise,a region of Italy 总被引:8,自引:0,他引:8
Alessandro Filla Giuseppe De Michele Roberto Marconi Luigi Bucci Carmine Carillo Anna Elisa Castellano Lucio Iorio Claudio Kniahynicki Francesco Rossi Giuseppe Campanella 《Journal of neurology》1992,239(6):351-353
Summary An epidemiological survey of hereditary ataxias and paraplegias was conducted in Molise, a region of Italy (335, 211 inhabitants on 1 January 1989). Total prevalence was 7.5 x 10–5 inhabitants (95% confidence limits 4.8–11.1). There were 7 patients with Friedreich's disease, 5 with early onset cerebellar ataxia with retained tendon reflexes, 4 with ataxia-telangiectasia, 9 with hereditary spastic paraplegias (2 autosomal dominant and 7 autosomal recessive cases). There was no patient with autosomal dominant cerebellar ataxia. 相似文献
993.
R. Langevin PhD P. Wright MA L. Handy 《Sexual abuse : a journal of research and treatment》1989,2(3):227-253
From a data bank of 479 sex offenders, a comparison was undertaken of those reporting any childhood sexual abuse versus those reporting none. A total of 201 men (42.0%) reported abuse, 261 (54.5%) did not and for 17 (3.5%), information was unavailable. The Abused and Nonabused Groups were compared on demographic information, the MMPI, Clarke Sex History Questionnaire and the Clarke Parent Child Relations Questionnaire. The Abused and Nonabused groups were similar in age, marital status, income, and criminal history, but the Abused Group had significantly less education. The Abused Group showed sexualization of their childhood, not only in the number of contacts with adults but also with age peers and siblings of both sexes. They tended to have wider ranging and more frequent sexual experiences as adults both with men and women. They more often raped. The Abused Group tended to show more emotional instability than the Nonabused Group in more frequent suicidal ideation and suicide attempts, as well as in elevated Mania Scale Scores on the MMPI. The family background of the Abused Group was more disturbed than the Nonabused Group's; especially father-son relations. They reported more alcohol use and abuse in their parents and more parent-child aggression than nonabused offenders did. Although it is unlikely that child sexual abuse causes sexual anomalies, the results of the present study suggest that childhood sexual victimization in the lives of adult sex offenders merits further investigation and has implications for treatment. 相似文献
994.
Fiore L Plebani A Buttinelli G Fiore S Donati V Marturano J Soresina A Martire B Azzari C Nigro G Cardinale F Trizzino A Pignata C Alvisi P Anastasio E Bossi G Ugazio AG 《Clinical immunology (Orlando, Fla.)》2004,111(1):98-102
Patients with agammaglobulinemia may excrete enteroviruses, including vaccine-derived poliovirus, for prolonged periods of time. This poses a risk to the patients but it also may pose a risk to the population after eradication of poliovirus and the cessation of routine vaccination. To assess this risk, a pilot study was performed to identify potential poliovirus long-term excretors in a cohort of 38 patients with a definite/presumptive diagnosis of X-linked agammaglobulinemia (XLA). Stool samples were analyzed to detect any polio or other enteroviruses replicating in the gut and neutralizing antibodies against polioviruses were measured in the sera. No viruses were isolated from the stool samples and most sera had neutralizing antibody levels against all three poliovirus serotypes considered by the WHO to be protective in immunocompetent individuals. This suggests that long-term excretion of enteroviruses in patients with agammaglobulinemia is relatively uncommon. 相似文献
995.
Renate A. Morawetz G. Paolo Rizzardi Didier Glauser Olivier Rutschmann Bernard Hirschel Luc Perrin Milos Opravil Markus Flepp Jan von Overbeck Michel P. Glauser Silvia Ghezzi Elisa Vicenzi Guido Poli Adriano Lazzarin 《European journal of immunology》1997,27(12):3223-3227
Homozygous (Δccr5/Δccr5) and heterozygous (CCR5/Δccr5) deletions in the β-chemokine receptor 5 (CCR5) gene, which encodes for the major co-receptor for macrophage-tropic HIV-1 entry, have been implicated in resistance to HIV infection and in protection against disease progression, respectively. The CCR5/Δccr5 genotype was found more frequently in long-term nonprogressors (LTNP) (31.0%) than in progressors (10.6%, p < 0.0001), in agreement with previous studies. Kaplan-Meier survival analyses showed that a slower progression of disease, i.e. higher proportion of subjects with CD4+ T cell counts >500/μl (p = 0.0006) and a trend toward a slower progression to AIDS (p = 0.077), was associated with the CCR5/Δccr5 genotype. However, when LTNP were analyzed separetely, no significant differences in CD4+ T cell counts (p = 0.12) and viremia levels (p = 0.65) were observed between the wild-type (69 % of LTNP) and the heterozygous (31.0 %) genotypes. Therefore, there are other factors which play a major role in determining the status of nonprogression in the majority of LTNP. Furthermore, there was no evidence that the CCR5/Δccr5 genotype was associated with different rates of disease progression in the group of progressors. Taken together, these results indicate that the CCR5/Δccr5 genotype is neither essential nor sufficient for protection against the progression of HIV disease. 相似文献
996.
Finite-element models of the human head 总被引:9,自引:0,他引:9
L. Voo PhD S. Kumaresan F. A. Pintar N. Yoganandan A. Sances Jr. 《Medical & biological engineering & computing》1996,34(5):375-381
A review is presented of the existing finite-element (FE) models for the biomechanics of human head injury. Finite element
analysis can be an important tool in describing the injury biomechanics of the human head. Complex geometric and material
properties pose challenges to FE modelling. Various assumptions and simplifications are made in model development that require
experimental validation. More recent models incorporate anatomic details with higher precision. The cervical vertebral column
and spinal cord are included. Model results have been more qualitative than quantitative owing to the lack of adequate experimental
validation. Advances include transient stress distribution in the brain tissue, frequency responses, effects of boundary conditions,
pressure release mechanism of the foramen magnum and the spinal cord, verification of rotation and cavitation theories of
brain injury, and protective effects of helmets. These theoretical results provide a basic understanding of the internal biomechanical
responses of the head under various dynamic loading conditions. Basic experimental research is still needed to determine more
accurate material properties and injury tolerance criteria, so that FE models can fully exercise their analytical and predictive
power for the study and prevention of human head injury. 相似文献
997.
Daniela Concolino Simona Sestito Francesca Falvo Giusy Romano Miriam Ceravolo Elisa Anastasio Licia Pensabene Elisa A. Colombo Lidia Larizza 《European journal of medical genetics》2019,62(1):73-76
Clericuzio-type poikiloderma with neutropenia is a well-defined nosological entity, but despite a remarkable number of clinical reports, no long term follow-up data has been presented to date regarding patients with this rare condition.Here we describe the results of clinical follow-up of three siblings, one male (Patient 1) and two females (Patients 2 and 3), subsequent to their first clinical and then molecular diagnosis of Clericuzio-type poikiloderma with neutropenia syndrome due to mutation of USB1gene. Patient 1 always expressed the most severe phenotype, while patients 2 and 3 showed an intermediate and mild phenotype, respectively, as observed since their first clinical evaluation. None of the patients developed skin cancer and/or myelodysplastic disorders considering the peripheral haematological findings. Lens opacity, never reported before, was found in two of the three patients.The long term follow-up observations confirm the stability over time of the pronounced intra-familial heterogeneity of clinical manifestations observed prior to and upon molecular diagnosis. We conclude that prolonged follow-up is an adjunct tool to monitor intra-familial variability of PN clinical spectrum which may favour surveillance of more serious complications of the disease among siblings, when a patient-specific clinical expressivity is present. 相似文献
998.
Tancredi M Sensi E Cipollini G Aretini P Lombardi G Di Cristofano C Presciuttini S Bevilacqua G Caligo MA 《European journal of human genetics : EJHG》2004,12(9):775-777
Germ-line mutations in the BRCA1 gene cause hereditary predisposition to breast and ovarian cancer. BRCA1 and BRCA2 mutations account for about 40% of high-risk families. Mutation-screening methods generally focus on genomic DNA and are usually PCR based; they enable the detection of sequence alterations such as point mutations and small deletions and insertions. However, they do not allow the detection of partial or entire exon(s) loss, because the presence of the homologous allele results in a positive PCR signal, giving rise to a false-negative result. Identification of unusual haplotypes in patient samples by an expectation maximization algorithm has recently been suggested as a method for identifying hemizygous regions caused by large intragenic deletions. Using a similar approach, we identified a novel BRCA1 genomic rearrangement in a breast/ovarian cancer family negative at the first mutation screening; we detected a deletion encompassing exons 14-19, probably due to replication slippage between Alu sequences. 相似文献
999.
1000.
Evolution of foot-and-mouth disease virus 总被引:28,自引:0,他引:28
Domingo E Escarmís C Baranowski E Ruiz-Jarabo CM Carrillo E Núñez JI Sobrino F 《Virus research》2003,91(1):47-63
Foot-and-mouth disease virus evolution is strongly influenced by high mutation rates and a quasispecies dynamics. Mutant swarms are subjected to positive selection, negative selection and random drift of genomes. Adaptation is the result of selective amplification of subpopulations of genomes. The extent of adaptation to a given environment is quantified by a relative fitness value. Fitness values depend on the virus and its physical and biological environment. Generally, infections involving large population passages result in fitness gain and population bottlenecks lead to fitness loss. Very different types of mutations tend to accumulate in the foot-and-mouth disease virus (FMDV) genome depending on the virus population size during replication. Quasispecies dynamics predict higher probability of success of antiviral strategies based on multivalent vaccines and combination therapy, and this has been supported by clinical and veterinary practice. Quasispecies suggest also new antiviral strategies based on virus entry into error catastrophe, and such procedures are under investigation. Studies with FMDV have contributed to the understanding of quasispecies dynamics and some of its biological implications. 相似文献