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Objective: To identify factors influencing attitudes of partially dentate adults towards dental treatment in Ireland. Background: People are retaining more teeth later in life than ever before. Management of partially dentate older adults will be a major requirement for the future and it is important to determine factors which may influence patients’ attitudes to care. Methods: Subjects: A purposive sample of 22 partially dentate patients was recruited; 12 women and 12 men, ranging in age from 45 to 75 years. Data Collection: Semi‐structured individual interviews. Results: Dental patients have increasing expectations in relation to (i) a more sophisticated approach to the management of missing teeth and (ii) their right to actively participate in decision making regarding the management of their tooth loss. There is some evidence of a cohort effect with younger patients (45–64 years) having higher expectations. Conclusions: The evidence of a cohort effect within this study in relation to higher patient expectations indicates that both contemporary and future patients are likely to seek a service based on conservation and restoration of missing teeth by fixed prostheses.  相似文献   
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The classic myotonic dystrophy, Steinert’s disease (DM1) was first described in 1909, and the second type, Ricker’s disease (DM2), in 1994. In 1992 the disease-causing mutation in DM1 was identified as a CTG repeat in the DMPK gene on chromosome 19q, and in 2001 the DM2 mutation was identified as a CCTG repeat expansion in the ZNF9 gene on chromosome 3q. Multisystemic symptoms of the diseases affect skeletal muscle, brain, eye, heart, and the endocrine system. The pathogenesis of both forms seems to be based on a gain-of-function RNA mechanism and on alterations in RNA metabolism and spliceopathy. Our review focuses on clinical features, diagnostic techniques, and new aspects of molecular pathogenesis and therapy.  相似文献   
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The monogenic inherited isolated alopecias comprise a group of clinically and genetically heterogeneous forms of hairlessness or hair loss. Clinical classification of the isolated alopecias is based on the onset of the disorder, the regions affected, and the structure of the hair shaft. Men and women are equally affected, and the mode of inheritance is autosomal dominant or autosomal recessive. Since the identification of the keratin gene KRT86 as a cause of the so-called monilethrix in 1997, mutations in nine other genes have been identified for various isolated alopecias. These include other keratin genes for monilethrix (KRT81 and KRT83), the hairless gene for atrichia congenita/papular atrichia, the corneodesmosin gene for the autosomal dominant form of hypotrichosis simplex, and the genes desmoglein 4, lipase H, and the G-protein-coupled receptor P2RY5 (LPAR6) for the autosomal recessive forms of hypotrichosis. Molecular genetic and pathophysiological studies of these rare disorders of hair development have contributed significantly to our understanding of the basic mechanisms of hair loss as well as the physiological mechanisms of hair growth.  相似文献   
116.

Background

It is important to understand the extent to which genetic factors regulate acquired immunity to common infections. A classical twin study design is useful to estimate the heritable component of variation in measurable immune parameters.

Methodology/Principal Findings

This study assessed the relative heritability of different plasma antibody isotypes and subclasses (IgG1, IgG2, IgG3, IgG4, IgM, IgA and IgE) naturally acquired to P. falciparum blood stage antigens AMA1, MSP1-19, MSP2 (two allelic types) and MSP3 (two allelic types). Separate analyses were performed on plasma from 213 pairs of Gambian adult twins, 199 child twin pairs sampled in a dry season when there was little malaria transmission, and another set of 107 child twin pairs sampled at the end of the annual wet season when malaria was common. There were significantly positive heritability (h 2) estimates for 48% (20/42) of the specific antibody assays (for the seven isotypes and subclasses to the six antigens tested) among the adults, 48% (20/42) among the children in the dry season and 31% (13/42) among the children in the wet season. In children, there were significant heritability estimates for IgG4 reactivity against each of the antigens, and this subclass had higher heritability than the other subclasses and isotypes. In adults, 75% (15/20) of the significantly heritable antigen-specific isotype responses were attributable to non-HLA class II genetic variation, whereas none showed a significant HLA contribution.

Significance

Genome-wide approaches are now warranted to map the major genetic determinants of variable antibody isotype and subclass responses to malaria, alongside evaluation of their impact on infection and disease. Although plasma levels of IgG4 to malaria antigens are generally low, the exceptionally high heritability of levels of this subclass in children deserves particular investigation.  相似文献   
117.
Conservation Biogeography: assessment and prospect   总被引:10,自引:0,他引:10  
There is general agreement among scientists that biodiversity is under assault on a global basis and that species are being lost at a greatly enhanced rate. This article examines the role played by biogeographical science in the emergence of conservation guidance and makes the case for the recognition of Conservation Biogeography as a key subfield of conservation biology delimited as: the application of biogeographical principles, theories, and analyses, being those concerned with the distributional dynamics of taxa individually and collectively, to problems concerning the conservation of biodiversity. Conservation biogeography thus encompasses both a substantial body of theory and analysis, and some of the most prominent planning frameworks used in conservation. Considerable advances in conservation guidelines have been made over the last few decades by applying biogeographical methods and principles. Herein we provide a critical review focussed on the sensitivity to assumptions inherent in the applications we examine. In particular, we focus on four inter‐related factors: (i) scale dependency (both spatial and temporal); (ii) inadequacies in taxonomic and distributional data (the so‐called Linnean and Wallacean shortfalls); (iii) effects of model structure and parameterisation; and (iv) inadequacies of theory. These generic problems are illustrated by reference to studies ranging from the application of historical biogeography, through island biogeography, and complementarity analyses to bioclimatic envelope modelling. There is a great deal of uncertainty inherent in predictive analyses in conservation biogeography and this area in particular presents considerable challenges. Protected area planning frameworks and their resulting map outputs are amongst the most powerful and influential applications within conservation biogeography, and at the global scale are characterised by the production, by a small number of prominent NGOs, of bespoke schemes, which serve both to mobilise funds and channel efforts in a highly targeted fashion. We provide a simple typology of protected area planning frameworks, with particular reference to the global scale, and provide a brief critique of some of their strengths and weaknesses. Finally, we discuss the importance, especially at regional scales, of developing more responsive analyses and models that integrate pattern (the compositionalist approach) and processes (the functionalist approach) such as range collapse and climate change, again noting the sensitivity of outcomes to starting assumptions. We make the case for the greater engagement of the biogeographical community in a programme of evaluation and refinement of all such schemes to test their robustness and their sensitivity to alternative conservation priorities and goals.  相似文献   
118.
Early acquisition of Pseudomonas aeruginosa is associated with a poorer prognosis in patients with cystic fibrosis. We investigated whether polymorphisms in CD14, the lipopolysaccharide receptor, increase the risk of early infection. Forty-five children with cystic fibrosis were investigated with annual bronchoalveolar lavage (BAL) and plasma sCD14 levels. Plasma sCD14 levels were significantly lower in children from whom P.aeruginosa was subsequently isolated (492.75 μg/ml vs. 1339.43 μg/ml, p = 0.018). Those with the CD14 -159CC genotype had a significantly increased risk of early infection with P.aeruginosa suggesting that CD14 C-159T plays a role in determining the risk of early infection with P.aeruginosa.  相似文献   
119.
Between September 1990 and December 2002, 511 cetacean carcasses stranded or caught in commercial fisheries in England and Wales were examined post mortem . Salmonella group B was isolated from 60 of 279 (21.51%) harbour porpoises ( Phocoena phocoena ), predominantly from lung tissue. Forty-three of the Salmonella group B isolates were subsequently serotyped and all found to have the antigenic structure O4,12:a:-. The annual proportion of harbour porpoises testing positive for Salmonella O4,12:a:- increased significantly from 6% in the early 1990s to 27% after 1999. The cause(s) of the increasing prevalence of Salmonella O4,12:a:- are not known, but may reflect natural variation in the epidemiological cycle of Salmonella O4,12:a:- in harbour porpoises. The probability of isolating Salmonella O4,12:a:- from harbour porpoises increased with age, suggesting that the mode of transmission is principally horizontal. There appeared to be a weak degree of seasonality in the probability of isolating Salmonella O4,12:a:- with a low proportion of cases in the months of April and May. Based on pathological findings from infected carcasses, Salmonella O4,12:a:- may be part of the normal commensal flora of the lungs of cetaceans with the potential to act as an opportunistic pathogen.  相似文献   
120.
The thyroid plays an important role in development and is of primary importance in metabolism and heat loss for cetaceans, including the harbor porpoise (Phocoena phocoena). Several studies have demonstrated that environmental contaminants can alter various aspects of thyroid function in mammals and may contribute to various histologic changes. The present study completes the data set of a 2006 study by Das et al., by performing histological and immunohistologic investigations on thyroids of 36 harbor porpoises from Belgian and United Kingdom waters. The number and mean diameter of follicles (mum) and the relative proportion of follicular, connective, and vascular tissue (%) were quantified in the thyroid gland of each individual. Interfollicular fibrosis has been observed in these thyroid glands, and the collective findings support the hypothesis of an endocrine disruption of thyroid function through organochlorinated compounds. Our study aimed also to reveal potential relationships between thyroid morphometric data and metal levels (Cd, Fe, Zn, Cu, Se, and Hg) using multivariate statistical analysis. The multiple regressions revealed statistically significant relationships between trace elements (cadmium, selenium, and copper) and thyroid fibrosis. The largely negative relationships are interesting findings but do not support the hypothesis that these elements have an adverse effect on thyroid morphometry. Further research is needed to understand the nature of any relationship between organochlorine and trace element exposure and thyroid gland morphology and function in harbor porpoises.  相似文献   
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