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361.
The stringent regulations for discharging acid mine drainage (AMD) has led to increased attention on traditional or emerging treatment technologies to establish efficient and sustainable management for mine effluents. To assess new technologies, laboratory investigations on AMD treatment are necessary requiring a consistent supply of AMD with a stable composition, thus limiting environmental variability and uncertainty during controlled experiments. Additionally, biotreatment systems using live cells, particularly micro-algae, require appropriate nutrient availability. Synthetic AMD (Syn-AMD) meets these requirements. However, to date, most of the reported Syn-AMDs are composed of only a few selected heavy metals without considering the complexity of actual AMD. In this study, AMD was synthesised based on the typical AMD characteristics from a copper mine where biotreatment is being considered using indigenous AMD algal-microbes. Major cations (Ca, Na, Cu, Zn, Mg, Mn and Ni), trace metals (Al, Fe, Ag, Na, Co, Mo, Pb and Cr), essential nutrients (N, P and C) and high SO4 were incorporated into the Syn-AMD. This paper presents the preparation of chemically complex Syn-AMD and the challenges associated with combining metal salts of varying solubility that is not restricted to one particular mine site. The general approach reported and the particular reagents used can produce alternative Syn-AMD with varying compositions. The successful growth of indigenous AMD algal-microbes in the Syn-AMD demonstrated its applicability as appropriate generic media for cultivation and maintenance of mining microorganisms for future biotreatment studies.  相似文献   
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The identification of cell-free fetal DNA circulating in maternal blood combined with technological developments, in particular next-generation sequencing, is enabling the development of safer prenatal diagnosis. While this technology has been widely applied as a highly sensitive screening test for aneuploidy, there has been relatively little clinical application for the diagnosis of monogenic disorders. In the UK, we have established non-invasive prenatal diagnosis (NIPD) as a clinical service for a range of inherited disorders. The results from NIPD do not require confirmation by invasive testing and are welcomed by patients and health professionals alike. Here, we describe the technical approaches used, current practice and outline recommendations for best practice when delivering an NIPD service from an accredited laboratory. © 2017 John Wiley & Sons, Ltd.  相似文献   
364.

Background

Disease severity is important when considering genes for inclusion on reproductive expanded carrier screening (ECS) panels. We applied a validated and previously published algorithm that classifies diseases into four severity categories (mild, moderate, severe, and profound) to 176 genes screened by ECS. Disease traits defining severity categories in the algorithm were then mapped to four severity-related ECS panel design criteria cited by the American College of Obstetricians and Gynecologists (ACOG).

Methods

Eight genetic counselors (GCs) and four medical geneticists (MDs) applied the severity algorithm to subsets of 176 genes. MDs and GCs then determined by group consensus how each of these disease traits mapped to ACOG severity criteria, enabling determination of the number of ACOG severity criteria met by each gene.

Results

Upon consensus GC and MD application of the severity algorithm, 68 (39%) genes were classified as profound, 71 (40%) as severe, 36 (20%) as moderate, and one (1%) as mild. After mapping of disease traits to ACOG severity criteria, 170 out of 176 genes (96.6%) were found to meet at least one of the four criteria, 129 genes (73.3%) met at least two, 73 genes (41.5%) met at least three, and 17 genes (9.7%) met all four.

Conclusion

This study classified the severity of a large set of Mendelian genes by collaborative clinical expert application of a trait-based algorithm. Further, it operationalized difficult to interpret ACOG severity criteria via mapping of disease traits, thereby promoting consistency of ACOG criteria interpretation.
  相似文献   
365.
We examined the potential impacts of future climate change on the distribution and production of Atlantic cod (Gadus morhua) on the northeastern USA’s continental shelf. We began by examining the response of cod to bottom water temperature changes observed over the past four decades using fishery-independent resource survey data. After accounting for the overall decline in cod during this period, we show that the probability of catching cod at specified locations decreased markedly with increasing bottom temperature. Our analysis of future changes in water temperature was based on output from three coupled atmosphere–ocean general circulation models under high and low CO2 emissions. An increase of <1.5°C is predicted for all sectors under the low emission scenario in spring and autumn by the end of this century. Under the high emission scenario, temperature increases range from ~2°C in the north to >3.5°C in the Mid-Atlantic Bight. Under these conditions, cod appear vulnerable to a loss of thermal habitat on Georges Bank, with a substantial loss of thermal habitat farther south. We also examined temperature effects on cod recruitment and growth in one stock area, the Gulf of Maine, to explore potential implications for yield and resilience to fishing. Cod survival during the early life stages declined with increasing water temperatures, offsetting potential increases in growth with warmer temperatures and resulting in a predicted loss in yield and increased vulnerability to high fishing mortality rates. Substantial differential impacts under the low versus high emission scenarios are evident for cod off the northeastern USA.  相似文献   
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Climate change objectives of mitigation and adaptation are being mainstreamed into many policies and strategies around the world. In Europe, this has included the Rural Development Programme, which aims to tackle multiple social, economic and environmental objectives in rural areas, and the integration of climate change objectives adds another strand of complexity to the decision making process. When formulating policies determining the likely effectiveness of any particular measure can be challenging, especially with respect to the spatial and temporal variability of greenhouse gas emissions. This is a challenge faced by all countries and regions around the world. This study uses Europe as an example to explore this issue. It highlights the variability in emissions from land use operations that may be encountered under different conditions and time horizons and considers this in the context of policy formulation. The Optimal Strategies for Climate change Action in Rural Areas software has been adapted to derive net greenhouse gas emissions for rural development operations for all regions in Europe. Operations have been classified into five categories based on their benefit/burden over different time horizons. The analysis shows that it is important to understand the time period over which benefits or burdens are realised and determine how this fits with policy instruments, such as land management agreements and the permanency of actions. It also shows that in some regions an operation can have benefits, but in other regions it has burdens; thus, location can be critical. Finally, in the context of developing operations to meet multiple social, economic and environmental objectives, it is important to acknowledge that seeking options that only reduce emissions may not always be practical or possible. In some instances, we may have to accept an increase in emissions in order to meet other objectives. It is important that we evaluate the net greenhouse gas emissions of all operations, not just those aimed at climate change mitigation. We can then select those with the least burden in the process of developing optimal solutions to meet multiple objectives.  相似文献   
369.
There is a growing recognition that animal behavior can affect wildlife conservation, but there have been few direct studies of animal behavior in conservation programs. However, a great deal of existing behavioral research can be applied in the context of conservation. Research on avian vocalizations provides an excellent example. The conspicuous nature of the vocal behavior of birds makes it a useful tool for monitoring populations and measuring biodiversity, but the importance of vocalizations in conservation goes beyond monitoring. Geographic song variants with population-specific signatures, or dialects, can affect territory formation and mate choice. Dialects are influenced by cultural evolution and natural selection and changes can accumulate even during the timescale of conservation interventions, such as translocations, reintroductions, and ex situ breeding. Information from existing research into avian vocalizations can be used to improve conservation planning and increase the success of interventions. Vocalizations can confer a number of benefits for conservation practitioners through monitoring, providing baseline data on populations and individuals. However, the influence of cultural variation on territory formation, mate choice, and gene flow should be taken into account because cultural differences could create obstacles for conservation programs that bring birds from multiple populations together and so reduce the success of interventions.  相似文献   
370.
Ocean acidification is not happening in isolation but against a background of chronic low-level pollution for most coastal marine environments. The reproductive and larval stages of marine invertebrates can be highly sensitive to the impacts of both environmental pollutants and ocean acidification, but very little is currently known regarding the potential impacts of combined contaminant and high CO2 exposures on the health of marine organisms. Ocean acidification research to date has focused heavily on the responses of calcifying marine invertebrate larvae and algae, and as such the polychaetes as a group, despite their ecological importance, remain understudied. Here, we investigate the effects of elevated seawater CO2 (pH range 8.1–7.4, plus an extreme pH of 7.2 in the sperm motility experiments), in combination with the environmental pollutant copper (0.002 μM), on the early life history stages of the intertidal polychaete Pomatoceros lamarckii from two populations. P. lamarckii sperm appear to be robust to elevated seawater CO2. Whilst all three of the sperm motility end points measured showed a response to elevated CO2, these responses were small and not linear. The percentage of motile sperm and sperm curvilinear velocity were significantly reduced in the lower pH treatments of 7.4 and 7.2, whereas sperm straight-line velocity (VSL) was mostly unaffected except for an increased VSL at pH 8.0. Fertilisation success was investigated using two populations from the South West (UK), one from Torquay and one from Plymouth Sound. Fertilisation success was slightly but significantly reduced at the 7.6 and 7.4 pH treatments for both populations (a 9.0 % reduction in fertilisation success from pH 8.1 to 7.4 for Torquay), but with a greater effect observed in the population from Plymouth Sound (a 13.33 % reduction in fertilisation success). No additional impact of 0.002 μM copper exposure on fertilisation success was found. Larval survival was found to be much more sensitive to elevated CO2 than sperm function or fertilisation, and a significant interaction with copper exposure was observed. These results demonstrate the potential for polychaete larvae to be affected by predicted ocean acidification conditions and that chronic coastal pollutants, such as copper, have the potential to alter larval susceptibility to ocean acidification conditions.  相似文献   
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