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We studied two children born to a myasthenic mother. The first child, a female, had multiple flexion contractures. She died 1 h after birth. In the second pregnancy, 3 years later, ultra-sonographic examination at 20 weeks showed decreased fetal movements and multiple flexion contractures. The pregnancy was interrupted. Eight other cases of congenital rnyasthenia with arthrogryposis are known; four of them are siblings. The recurrence risk may be as high as 100 per cent. Our second case demonstrates that prenatal diagnosis is possible early enough to allow termination of pregnancy.  相似文献   
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Real-time methods to monitor stable isotope ratios of CO_2 are needed to identify biogeochemical origins of CO_2 emissions from the soil–air interface. An isotope ratio infra-red spectrometer(IRIS) has been developed to measure CO_2 mixing ratio with δ~13C isotopic signature, in addition to mixing ratios of other greenhouse gases(CH_4, N2_O). The original aspects of the instrument as well as its precision and accuracy for the determination of the isotopic signature δ~13C of CO_2 are discussed. A first application to biodegradation of hydrocarbons is presented, tested on a hydrocarbon contaminated site under aerobic bio-treatment. CO_2 flux measurements using closed chamber method is combined with the determination of the isotopic signature δ~13C of the CO_2 emission to propose a non-intrusive method to monitor in situ biodegradation of hydrocarbons. In the contaminated area, high CO_2 emissions have been measured with an isotopic signature δ~13C suggesting that CO_2 comes from petroleum hydrocarbon biodegradation.This first field implementation shows that rapid and accurate measurement of isotopic signature of CO_2 emissions is particularly useful in assessing the contribution of contaminant degradation to the measured CO_2 efflux and is promising as a monitoring tool for aerobic bio-treatment.  相似文献   
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Between 2000 and 2007 pooled muscle tissue samples of the European eel (Anguilla anguilla) from 48 sites in Flanders (Belgium) were analysed for 30 polychlorinated biphenyl (PCB) congeners. There was a large variation between individual sites (range 11-7752 ng/g wet weight (ww) for the sum of the ICES 7 PCBs), eels from the River Meuse basin (mean 1545 ng/g ww) being considerably more polluted than those from the River Scheldt (615) and IJzer (61) basins. Overall, PCB 153, PCB 138 and PCB 180 were the most prominent congeners, however PCB patterns varied between the monitored locations. Analysis of the weight percentage of congeners demonstrates obvious differences in PCB composition between sites, indicating differential sources of pollution. Due to the variation in patterns, atmospheric fallout does not seem to be the main source of the PCB spread, but instead both local and upstream sources linked to industrial activities seem to be the main cause for PCB presence in Flanders. Considering the levels of the Sum 7 PCBs, eels are not compliant with the Belgian legal limits for consumption (75 ng/g ww) in 71% of the sites. Regular consumption of eels from polluted sites leads to a considerable excess of the WHO Acceptable Daily Intake value. Consumption of wild eels should by all means be prevented, as it presents risks for human health, especially for local anglers consuming their catch.  相似文献   
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Water-soluble synthetic polymers are extensively used in cosmetics, detergents and paints. Many end up in wastewater and, later on, in wastewater-treatment plants. In order to gain an insight into their fate in such plants, fluorescence and radioactivity labelings were compared using a lab-scale reactor designed to mimic industrial conditions. Two fermentation media were considered, namely a mixture of E402 and E204 micro-organisms and an activated sludge collected from a water-treatment plant located in the south of France. A sample of low molar mass commercial poly(acrylic acid) (PAA) was labeled by radioactivity with tritium and by coupling the 6-aminofluorescein fluorescent dye. Labeled PAA-containing sludges were allowed to ferment. To monitor the fate of the polymers, aliquots of the fermented mixtures were withdrawn at selected times and centrifuged. Liquid and solid phases were analyzed by scintigraphy or UV spectrometry, depending of the labeling techniques. Both techniques led to similar distributions, c.a. 75% in the supernatant and 25% in the solid phase. Distributions remained constant during the biological tests. There was no degradation of the commercial PAA after aqueous size exclusion chromatography (SEC), in agreement with literature. These features showed that fluorescence-labeling can be used instead of the complex and expensive radiolabeling. The validated fluorescence-based method was then applied to a linear poly(acrylic acid) synthesized by ATRP and labeled with 6-aminofluorescein. There was no significant difference between the commercial and the linear poly(acrylic acid)s. In contrast, a linear PAA with 5% of tert-butyl ester repeating units was predominantly found in the solid phase although adsorption or absorption by micro-organisms could not be demonstrated. The method based on fluorescence labeling should be applicable to other water soluble polymers provided that the dye remains attached to the polymer as it was the case for the studied poly(acrylic acid)s.  相似文献   
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Bioaccumulation is essential for gaining insight into the impact of exposure to organic micropollutants in aquatic fauna. Data are currently available on the bioaccumulation of persistent organic pollutants, but there is very little documentation on the bioaccumulation of pharmaceuticals and personal care products (PPCPs). The bioconcentration of selected PPCPs was studied in marine mussels (Mytilus galloprovincialis). The selected PPCPs were two organic UV filters, i.e., 2-ethylhexyl-4-trimethoxycinnamate (EHMC) and octocrylene (OC), and two benzodiazepines (BZP), i.e., diazepam (DZP) and tetrazepam (TZP). Laboratory experiments were performed in which M. galloprovincialis was exposed to these compounds either directly from water, for the less lipophilic substances (BZP) or via spiked food for lipophilic UV filters. M. galloprovincialis uptook and eliminated BZP following first-order kinetics. The biological half-life (t (1/2)) of TZP was 1.4?days, resulting in a bioconcentration factor of 64 and 99?mL?g(-1) dry weight (dw), respectively, for 2.3 and 14.5?μg?L(-1) of exposure, while the biological half-life (t (1/2)) of DZP was 0.4?days, resulting in a bioconcentration factor of 51?mL?g(-1) dw for 13.2?μg?L(-1) of exposure. The uptake of UV filter was rapid in mussels, followed by elimination within 24?h. EHMC increased from 15 to 138?ng?g(-1) dw in 1?h and decreased to 25?ng?g(-1) after 24?h for 11.9?μg?L(-1) exposure. OC reached 839?ng?g(-1) dw after 1?h and decreased to 33?ng?g(-1) after 24?h for 11.6?μg?L(-1) exposure. However, EHMC and OC were slightly accumulated in 48?h, i.e., 38 and 60?ng?g(-1) dw, respectively.  相似文献   
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Recent large-scale studies have shown that biodiversity-rich regions also tend to be densely populated areas. The most obvious explanation is that biodiversity and human beings tend to match the distribution of energy availability, environmental stability and/or habitat heterogeneity. However, the species–people correlation can also be an artefact, as more populated regions could show more species because of a more thorough sampling. Few studies have tested this sampling bias hypothesis. Using a newly collated dataset, we studied whether Orthoptera species richness is related to human population size in Italy’s regions (average area 15,000 km2) and provinces (2,900 km2). As expected, the observed number of species increases significantly with increasing human population size for both grain sizes, although the proportion of variance explained is minimal at the provincial level. However, variations in observed Orthoptera species richness are primarily associated with the available number of records, which is in turn well correlated with human population size (at least at the regional level). Estimated Orthoptera species richness (Chao2 and Jackknife) also increases with human population size both for regions and provinces. Both for regions and provinces, this increase is not significant when controlling for variation in area and number of records. Our study confirms the hypothesis that broad-scale human population–biodiversity correlations can in some cases be artefactual. More systematic sampling of less studied taxa such as invertebrates is necessary to ascertain whether biogeographical patterns persist when sampling effort is kept constant or included in models.  相似文献   
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