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161.
162.
    

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   
163.
    
Protected areas are a key instrument for conservation. Despite this, they are vulnerable to risks associated with weak governance, land-use intensification, and climate change. We used a novel hierarchical optimization approach to identify priority areas for expanding the global protected area system that explicitly accounted for such risks while maximizing protection of all known terrestrial vertebrate species. To incorporate risk categories, we built on the minimum set problem, where the objective is to reach species distribution protection targets while accounting for 1 constraint, such as land cost or area. We expanded this approach to include multiple objectives accounting for risk in the problem formulation by treating each risk layer as a separate objective in the problem formulation. Reducing exposure to these risks required expanding the area of the global protected area system by 1.6% while still meeting conservation targets. Incorporating risks from weak governance drove the greatest changes in spatial priorities for protection, and incorporating risks from climate change required the largest increase (2.52%) in global protected area. Conserving wide-ranging species required countries with relatively strong governance to protect more land when they bordered nations with comparatively weak governance. Our results underscore the need for cross-jurisdictional coordination and demonstrate how risk can be efficiently incorporated into conservation planning. Planeación de las áreas protegidas para conservar la biodiversidad en un futuro incierto  相似文献   
164.
Bottom sediment and suspended sediment samples from Hamilton Harbour (western Lake Ontario) and from a major tributary were profiled using polycyclic aromatic hydrocarbons (PAH) and thia-arenes as source apportionment tracers. Ratios of selected PAH and ratios of monomethyl and dimethyl/ethyl dibenzothiophenes to the parent dibenzothiophenes were calculated. Thia-arene and PAH profiles of Standard Reference Material SRM 1649 (urban dust/organics), SRM 1650 (diesel), SRM 1597 (coal tar), Hamilton coal tar and a composite Hamilton air particulate sample provided source sample data. The gas chromatography-mass spectrometry (GC-MS) chromatograms of all sample extracts were dominated by homocyclic PAH but interpretation of PAH profiles with respect to source was difficult. In contrast, thia-arene analyses revealed more distinct differences in profiles of samples collected in different areas of the harbour, including the tributary. These results indicated that areas of coal tar-contaminated sediment are potential contributors to the overall contaminant burden of sediments and suspended sediments in Hamilton Harbour. These data also indicated that contaminants related to mobile combustion sources were entering the harbour via a major tributary.  相似文献   
165.
    
On-road vehicle emissions of carbon monoxide (CO), nitrogen oxides (NOx), and volatile organic compounds (VOCs) during 1995–2009 in the Atlanta Metropolitan Statistical Area were estimated using the Motor Vehicle Emission Simulator (MOVES) model and data from the National Emissions Inventories and the State of Georgia. Statistically significant downward trends (computed using the nonparametric Theil-Sen method) in annual on-road CO, NOx, and VOC emissions of 6.1%, 3.3%, and 6.0% per year, respectively, are noted during the 1995–2009 period despite an increase in total vehicle distance traveled. The CO and NOx emission trends are correlated with statistically significant downward trends in ambient air concentrations of CO and NOx in Atlanta ranging from 8.0% to 11.8% per year and from 5.8% to 8.7% per year, respectively, during similar time periods. Weather-adjusted summertime ozone concentrations in Atlanta exhibited a statistically significant declining trend of 2.3% per year during 2001–2009. Although this trend coexists with the declining trends in on-road NOx, VOC, and CO emissions, identifying the cause of the downward trend in ozone is complicated by reductions in multiple precursors from different source sectors.
Implications:Large reductions in on-road vehicle emissions of CO and NOx in Atlanta from the late 1990s to 2009, despite an increase in total vehicle distance traveled, contributed to a significant improvement in air quality through decreases in ambient air concentrations of CO and NOx during this time period. Emissions reductions in motor vehicles and other source sectors resulted in these improvements and the observed declining trend in ozone concentrations over the past decade. Although these historical trends cannot be extrapolated to the future because pollutant concentration contributions due to on-road vehicle emissions will likely become an increasingly smaller fraction of the atmospheric total, they provide an indication of the benefits of past control measures.  相似文献   
166.
Inexpensive and accurate carrier testing for cystic fibrosis (CF) will be possible in the near future. There are no existing studies on the attitudes of English persons in the community to carrier testing for CF or any other recessive disorder. We have conducted a trial study of 166 persons at two schools, two doctors' surgeries, and a family planning clinic. Only a minority had clear pre-existing knowledge of cystic fibrosis and its genetic nature. However, over 80 per cent of those questioned expressed interest in knowing their carrier status. Although it is well known that uptake can only be assessed when a service is in place, and while further studies are required to confirm that testing will be of interest to couples of reproductive age with no previous knowledge of CF, the data strongly suggest that there will be interest in communitywide testing for CF carrier status when such a test becomes available in the United Kingdom.  相似文献   
167.
Little is known about the fate of arsenic (As) in land-applied litter from chickens that have been fed roxarsone, an organic feed additive containing As. This study seeks to elucidate the transfer of As in runoff from ditch-drained soils of the poultry-producing region of the Delmarva Peninsula by tracking As and phosphorus (P) export from seven drainage ditches over two water-years (1 July 2005 to 30 June 2007). Annual losses of As from ditches ranged from 0.004 to 0.071 kg ha(-1) while P losses ranged from 0.33 to 18.56 kg ha(-1), with the largest loads associated with a litter storage shed that served as a point source. Event-based As and P losses in ditch flow fluctuated by a factor of 162 and 1882, respectively. The two elements were correlated in flow from the ditch draining a litter storage shed (r = 0.99), and in sediment extracts in soils near the litter shed (r = 0.73), pointing to similar behavior under point source conditions. Indeed, As and P exhibited similar behavior within storms for all ditches, characterized by relatively high initial concentrations subject to rapid concentration declines before peak flow, consistent with dilution of a finite source. However, As and P concentrations varied significantly between ditches and showed considerable temporal variability within ditches, with no clear seasonal trends or associations with current management strategies. The results suggest that similar management strategies might be effective for As and P point sources, but that field management practices geared toward controlling nonpoint source P losses may not readily transfer to the control of As losses.  相似文献   
168.
Nutrient mitigation capacity in Mississippi Delta, USA drainage ditches   总被引:1,自引:0,他引:1  
Eutrophication and hypoxia within aquatic systems are a serious international concern. Various management practices have been proposed to help alleviate nutrient loads transported to the Gulf of Mexico and other high-profile aquatic systems. The current study examined the nutrient mitigation capacity of a vegetated (V) and non-vegetated (NV) agricultural drainage ditch of similar size and landform in the Mississippi Delta. While no statistically significant differences in ammonium, nitrate, or dissolved inorganic phosphorus mitigation between the two ditches existed, there were significant differences in total inorganic phosphorus percent load reductions (V: 36% ± 4; NV: 71% ± 4). However, both agricultural drainage ditches were able to mitigate nutrients, thus reducing the load reaching downstream aquatic receiving systems. Further studies examining ecosystem dynamics within drainage ditches such as sediment and plant nutrient partitioning, as well as microbial processes involved, are needed to provide a better understanding of natural nutrient variability, seasonality and flux.  相似文献   
169.
This study examined the toxicity of two pesticides (carbaryl and diquat dibromide) and one polycyclic aromatic hydrocarbon (fluoranthene), both singly and in mixture, to grass shrimp larvae (Palaemonetes pugio). These three chemicals are all present in coastal environments and can easily enter estuarine ecosystems. Fluoranthene was the most toxic chemical with a 96-h LC50 value of 32.45 microg/L, followed by carbaryl (43.02 microg/L) and diquat dibromide (1624 microg/L). In the chemical mixture tests, the binary carbaryl/diquat dibromide mixture and the ternary carbaryl/diquat dibromide/fluoranthene mixture had additive results.  相似文献   
170.
Radon concentration levels in a two-storey detached single-family dwelling in Northamptonshire, UK, were monitored continuously throughout a 5-week period during which active sub-slab depressurisation remediation measures were installed. Remediation of the property was accomplished successfully, with both the mean radon levels and the diurnal variability greatly reduced both upstairs and downstairs. Following remediation, upstairs and downstairs radon concentrations were 33% and 18% of their pre-remediation values respectively: the mean downstairs radon concentration was lower than that upstairs, with pre- and post-remediation values of the upstairs/downstairs concentration ratio, R(U/D), of 0.81 and 1.51 respectively. Cross-correlation between upstairs and downstairs radon concentration time-series indicates a time-lag of the order of 1 h or less, suggesting that diffusion of soil-derived radon from downstairs to upstairs either occurs within that time frame or forms a relatively insignificant contribution to the upstairs radon level. Cross-correlation between radon concentration time-series and the corresponding time-series for local atmospheric parameters demonstrated correlation between radon concentrations and internal/external pressure difference prior to remediation; this correlation disappears following remediation. Overall, these observations provide further evidence that radon concentration levels within a dwelling are not necessarily wholly determined by the effects of soil-gas advection, and further support the suggestion that, depending on the precise content of the building materials, upstairs radon levels, in particular, may be dominated by radon exhalation from the walls of the dwelling, especially in areas of low soil-gas radon.  相似文献   
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