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51.
Respiratory chain deficiency (RCD) is responsible for a clinically heterogeneous group of early-onset untreatable disorders. Enzymological prenatal diagnosis (PD) can only be offered to a fraction of families. Moreover, due to the two-fold genetic origin of the respiratory chain (nuclear and mitochondrial DNA) and owing to the large number of nuclear genes involved in the respiratory chain assembly, maintenance and functioning, the identification of the disease causing gene in a given family remains challenging. Here, we report on PD of RCD by direct screening of NDUFV1, SDH-Fp, SCO1 and SURF1 mutations in five unrelated families with complex I, II and IV deficiency, respectively. The identification of the disease-causing gene in a given family with RCD is a major issue to provide both adequate genetic counselling and early, reliable PD. Copyright © 2001 John Wiley & Sons, Ltd.  相似文献   
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Diflubenzuron (DFB) is an insecticide commonly used to control forest pests. The objectives of this study were to assess the effect of diflubenzuron on the development of Pinus pinaster seedlings and Pisolithus tinctorius under laboratory conditions and to study the possible protective role of this ectomycorrhizal fungus against the effects of diflubenzuron. In vitro experiments revealed that diflubenzuron inhibited fungal growth at all tested concentrations (0.01, 0.1, 1, 10 and 100 mg L?1). Root growth was inhibited at the two highest diflubenzuron concentrations. The activity of the antioxidant defence system of non-inoculated P. pinaster increased at 1 and 10 mg DFB kg?1 substrate, and inoculation increased the threshold to the highest concentration. The protective role of the ectomycorrhizal fungus was seen in the increase of CAT activity. This study revealed that despite causing no mortality, diflubenzuron has the ability to cause sub-lethal damage to P. pinaster. The disproportionate use of this insecticide may lead to higher amounts of its residues in soil and the biosphere, endangering trees, fungi and their symbiosis.  相似文献   
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Two measurement campaigns of volatile organic compounds (VOC) were carried out in the industrial city of Dunkerque, using Radiello passive samplers during winter (16–23 January) and summer (6–13 June) 2007. 174 compounds were identified belonging to six chemical families. Classifying sampling sites with similar chemical profiles by hierarchical ascending classification resulted in 4 groups that reflected the influence of the main industrial and urban sources of pollution. Also, the BTEX (Benzene, Toluene, Ethylbenzene and Xylenes) quantification allowed us to map their levels of concentration. Benzene and toluene (BT) showed high concentrations in Northern Dunkerque reflecting the influence of two industrial plants. Differences among spatial distributions of the BT concentrations over contrasted meteorological conditions were also observed. An atypical ratio of T/B in the summer samples led us to investigate the BTEX origins shedding light on the contribution of pollutants transported across various zones of VOC emissions situated in Europe.  相似文献   
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The concept of a knowledge-based approach to policy making (also referred to as 'evidence-based policy making' or 'science meets policy') has been around for 10 years, and is widely 'signed up to' by Governments. This paper examines the theory and the practice at national government (using the UK as a case study) and European levels, looking at how the knowledge-based approach has been applied in waste and resources management. There is general agreement that a knowledge-(or evidence-) based approach to policy making is a 'good thing'; however putting the concept into practice has proven challenging and is still evolving. The linkages between researchers and policy makers need to be further strengthened, as does the 'demand' for evidence from policy; requiring policy specialists to articulate their requirements for evidence sufficiently well in advance, and to do so routinely, is still an area of weakness. Using a model developed by the UK's Department for Environment, Food and Rural Affairs (Defra), we examine in detail some of the implications of changing the question from 'is this good research on waste and resources issues?' to 'is this good evidence for waste and resources policy?'. The paper also provides recommendations for further work required to achieve this at a European level, and for priority areas where international co-ordination of waste and resources research could add most value to policy.  相似文献   
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The influence of atmospheric phenanthrene (PHE) exposure (160 μg m−3) during one month on carbon allocation in clover was investigated by integrative (plant growth analysis) and instantaneous 13CO2 pulse-labelling approaches. PHE exposure diminished plant growth parameters (relative growth rate and net assimilation rate) and disturbed photosynthesis (carbon assimilation rate and chlorophyll content), leading to a 25% decrease in clover biomass. The root-shoot ratio was significantly enhanced (from 0.32 to 0.44). Photosynthates were identically allocated to leaves while less allocated to stems and roots. PHE exposure had a significant overall effect on the 13C partitioning among clover organs as more carbon was retained in leaves at the expense of roots and stems. The findings indicate that PHE decreases root exudation or transfer to symbionts and in leaves, retains carbon in a non-structural form diverting photosynthates away from growth and respiration (emergence of an additional C loss process).  相似文献   
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There is no certainty that adaptation to climate change is sustainable, and new approaches to assess current climate change adaptation trajectories are sorely needed. In this paper, we review the farmer-focused approaches (typical of vulnerability approaches) and agro-ecosystem-focused approaches (typical of resilience approaches). We propose that a combination of the two may be a better way to conceptualize sustainable adaptation to future climate change within an agro-ecological system. To test our hypothesis, we use the case study of Iran, a land that has shown both tremendous resilience and vulnerability in its agro-ecological system. We explore the changes that have occurred in the Iranian farming system and their implications for farmers’ resilience to climate change through an integrated lens combining vulnerability approaches and resilience approaches. During the previous five decades, we describe how Iranian peasants have become small farmers, the land tenure system has changed from a traditional landlord-sharecropping system to family farms, and the quantity and quality of the agro-ecological resources have changed considerably. Our integrative approach provides important insights for both research and policy. We show that combining the two approaches can have far-reaching implications for farmers’ adaptation to future climate change knowledge, policy, and practice since one approach aims to decrease farmers vulnerability and the other approach aims to build resilient agro-ecosystems.  相似文献   
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