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111.
112.
Aurélien Palmyre Mélanie Eyries Marie-Victoire Senat Augustin Ozanne Stéphanie Staraci Philippe Dufour Thierry Chinet Pascal Lacombe Florent Soubrier Philippe Charron 《黑龙江环境通报》2017,37(12):1261-1264
RASA1-related disease is a rare autosomal dominant disease characterized by capillary malformations, arteriovenous malformations (AVMs), and/or arteriovenous fistulas (AFVs). Penetrance is nearly complete and vascular malformations may cause serious complications such as organ injury due to oxygenation disorder, brain abscess, hemorrhage, and stroke. Early diagnosis is useful in order to discuss optimal management, including AVMs/AVFs embolization or surgical procedures, and try to prevent some of the complications. In this context, molecular testing of RASA1 gene mutation in relatives may help to better manage the family. All arteriovenous malformations are however not accessible to such procedures. In addition, these therapeutic procedures may result in potential side effects and complications. A couple was referred to our genetics unit and asked us for prenatal genetic testing about a RASA1 mutation. Here, we discuss about arguments that led our team to accept prenatal testing. To the best of our knowledge, no molecular prenatal diagnosis was reported until now in RASA1-related diseases. This first report of prenatal diagnosis in RASA1-related diseases may also offer perspectives for a more general discussion in the field of inherited arteriovenous malformations. 相似文献
113.
Nicolas Gruchy Eleonore Blondeel Nathalie Le Meur Géraldine Joly-Hélas Pascal Chambon Marianne Till Martine Herbaux Adeline Vigouroux-Castera Aurélie Coussement James Lespinasse Florence Amblard Mélanie Jimenez Pocquet Camille Lebel-Roy Frédérique Carré-Pigeon Elisabeth Flori Francine Mugneret Sylvie Jaillard Catherine Yardin Radu Harbuz Marie-Agnès Collonge-Rame Philippe Vago Mylène Valduga Nathalie Leporrier François Vialard 《黑龙江环境通报》2016,36(6):523-529
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Delphine Nicolas Aurélie Chaalali Hilaire Drouineau Jérémy Lobry Ainhize Uriarte Angel Borja Philippe Boët 《Regional Environmental Change》2011,11(3):639-649
The aim of this study was to determine whether the latitudinal distribution of fish species that use estuaries to complete
their entire life cycle has shifted northward as an expected consequence of global warming. The mean latitude of past fish
species distributions found in 1970s’ literature was compared with the mean latitude of distributions today based on fish
density indices collected in 55 tidal estuaries along the Atlantic European seaboard, from Portugal to Scotland. Among the
15 most common species, 11 displayed a positive difference between current and past mean latitudes suggesting a northward
shift of the populations. Using the occurrence of subtropical species in temperate areas as an indicator of water warming,
the northernmost range limit of 10 subtropical species was subsequently focused on. Six of them were recorded up to their
past northern latitudinal limit. These results reinforced the idea that a number of fish species associated to estuaries have
migrated northwards over the last 30 years, possibly due to water warming. These ecological changes can get important managerial
implications, i.e. in the assessment of the ecological status in European directives. 相似文献
117.
Morville S Scheyer A Mirabel P Millet M 《Journal of environmental monitoring : JEM》2004,6(12):963-966
A method using GC-MS and derivatization with N-(t-butyldimethylsilyl)-N-methyltrifluoroacetamide (MTBSTFA) was developed for the analysis of 20 phenolic compounds in atmospheric samples (gas and particles). Air sampling was carried out using a Hi-Vol sampler with glass fibre filter and XAD-2 resin at a flow rate of 60 m(3) h(-1). The particle and gas phases were collected separately over a period of 4 h. Samples were Soxhlet extracted, evaporated to dryness under nitrogen and refilled with acetonitrile. 100 microl of these extracts were derivatized with 100 microl of MTBSTFA at 80 degrees C for 1 h under strong stirring. Phenolic compounds were injected into a GC-MS in splitless mode and quantified as their TBDMS derivatives in the SIM mode. Mass spectral analysis of the derivatives of the 20 compounds studied indicates that the spectra are highly specific showing an ion at [M - 57]+ which is useful for structure confirmation or analysis at low levels using selected ion monitoring. Quantification limits varied between 5 microg l(-1) and 10 microg l(-1) which correspond to 20 pg m(-3) and 40 pg m(-3) for 250 m(3) of air sampled. This method was successfully applied to atmospheric samples. 相似文献
118.
Philippe Desmartin Zlatan Kopajtic Werner Haerdi 《Environmental monitoring and assessment》1997,44(1-3):413-423
The important role of the beta emitter Strontium-90 in our environmental has been studied since the nuclear age. This long half-life isotope (28.1 years) is produced in a relatively high yield (5.8 % from Uranium-235) during the fission of heavy elements. It has been reported to be the major artificial source of internal irradiation of the human body. Its valence shell electron configuration is the same as Calcium and so this isotope is easily fixed in the bones. The classical analysis of this particular isotope requires several weeks since it produces Yttrium-90 which is also a beta emitter. We developed a new trace analysis method by coupling High Performance Ionic Chromatography (HPIC), to separate Strontium-90 from natural or power plant reactor water, and on-line liquid scintillation counting detector, measuring the beta emission of low concentration Strontium-90 before Yttrium-90 is formed in a significant amount. We report here some analysis parameters : HPIC setup, scintillation cocktail, window, counting efficiency, linearity, pre-concentration and detection limits. We were able to determine very low concentrations of Strontium-90. The minimum concentration detected without a pre-concentration system was 0.5 ppt from a 200 µL sample (6.3×10-12 mole/L). The analysis only requires a few hours. 相似文献
119.
Managing Mediterranean soil resources under global change: expected trends and mitigation strategies
Lagacherie Philippe Álvaro-Fuentes Jorge Annabi Mohamed Bernoux Martial Bouarfa Sami Douaoui Abdelkader Grünberger Olivier Hammani Ali Montanarella Luca Mrabet Rachid Sabir Mohammed Raclot Damien 《Regional Environmental Change》2018,18(3):663-675
Regional Environmental Change - The soils of the Mediterranean Basin are the products of soil processes that have been governed by a unique convergence of highly differentiated natural and... 相似文献
120.
Kerzenmacher TE Keckhut P Hauchecorne A Chanin ML 《Journal of environmental monitoring : JEM》2006,8(7):682-690
Multi-regression analyses have often been used recently to detect trends, in particular in ozone or temperature data sets in the stratosphere. The confidence in detecting trends depends on a number of factors which generate uncertainties. Part of these uncertainties comes from the random variability and these are what is usually considered. They can be statistically estimated from residual deviations between the data and the fitting model. However, interferences between different sources of variability affecting the data set, such as the Quasi-Biennal Oscillation (QBO), volcanic aerosols, solar flux variability and the trend can also be a critical source of errors. This type of error has hitherto not been well quantified. In this work an artificial data series has been generated to carry out such estimates. The sources of errors considered here are: the length of the data series, the dependence on the choice of parameters used in the fitting model and the time evolution of the trend in the data series. Curves provided here, will permit future studies to test the magnitude of the methodological bias expected for a given case, as shown in several real examples. It is found that, if the data series is shorter than a decade, the uncertainties are very large, whatever factors are chosen to identify the source of the variability. However the errors can be limited when dealing with natural variability, if a sufficient number of periods (for periodic forcings) are covered by the analysed dataset. However when analysing the trend, the response to volcanic eruption induces a bias, whatever the length of the data series. The signal to noise ratio is a key factor: doubling the noise increases the period for which data is required in order to obtain an error smaller than 10%, from 1 to 3-4 decades. Moreover, if non-linear trends are superimposed on the data, and if the length of the series is longer than five years, a non-linear function has to be used to estimate trends. When applied to real data series, and when a breakpoint in the series occurs, the study reveals that data extending over 5 years are needed to detect a significant change in the slope of the ozone trends at mid-latitudes. 相似文献