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101.
A de novo paracentric inversion of chromosome 11 identified through antenatal diagnosis is described along with long-term follow-up information on the child and discussion of reported experiences with de novo inversions.  相似文献   
102.
Our understanding of amorphous semiconductors has been greatly clarified by recent theoretical and experimental work. It is now evident that the electrical properties of these materials are generally controlled by intrinsic defects which are either thermodynamically required or induced via strains during the deposition process. The nature of these defects is intimately related to the chemistry of the constituent atoms.  相似文献   
103.
An analysis is made of alphafetoprotein (AFP) concentrations in 3630 amniotic fluids submitted for prospective prenatal diagnoses over a 7-year period. There were 89 cases of anencephaly, 74 of open spina bifida and 3467 with normal singleton outcomes. The AFP data were expressed in both standard deviations above the mean and multiples of the normal median for individual weeks of gestation. False positive and false negative rates were comparable in the two systems at selected cut-offs. It is concluded that either system may be used in setting action limits for the primary distinction of unaffected pregnancies from those in which an open neural tube defect is present.  相似文献   
104.
Accurate carrier testing and prenatal diagnosis in Duchenne muscular dystrophy (DMD) families is facilitated when an Xp21 deletion is found to be segregating within a family. We discuss the results of the DNA testing in two families, one in which DNA from affected males was available for study and the other in which no DNA from an affected male was available. Factors complicating the counselling of DMD deletion families are outlined.  相似文献   
105.
A pregnant woman with indeterminate Duchenne muscular dystrophy (DMD) carrier status, but with DMD diagnosed in her deceased brother (unavailable for study), presented for prenatal diagnosis, intending to continue the pregnancy only if proven unaffected with DMD with near absolute certainty. Creatine kinase (CK) assays to clarify carrier status were inconclusive. Male sex in the fetus was identified, but DNA restriction fragment length polymorphism (RFLP) analysis was not yet available to this centre to investigate the possible transmission of the DMD gene, and the pregnancy was terminated. Tissue histology and dystrophin protein analysis demonstrated the absence of DMD. In a situation with proven maternal carrier status, future fetal inheritance of the opposite maternal X chromosome would indicate the presence of DMD. However, maternal carrier status remained in doubt through a second pregnancy, even with RFLP studies, and was finally established when dystrophin analysis confirmed the presence of DMD in the second fetus. Histologic findings are presented, contrasting features in the two fetuses. The value of dystrophin analysis for establishing the diagnosis of fetal DMD, in this case proving maternal carrier status in a difficult situation, and for demonstrating DMD gene:RFLP haplotype relationships is illustrated.  相似文献   
106.
A study of the relationship between natural hazards and climate change in the international context provides the background for a discussion of the expected changes. In the context of this global discussion, this paper reviews the current perspectives of those natural hazards that are likely to be influenced by climate change, using northern Canada as a regional case study. The northern implications of the United Nations Framework Convention on Climate Change are examined, including the status of climate change action by the northern territorial governments, the evolving role of indigenous people, and the responsibility for climate change impacts. The difficulties surrounding natural hazards research in remote locations, and the approaches of indigenous people to natural hazards are then presented. The paper concludes with a suggested policy approach for climate change and natural hazards in northern Canada, underscoring the need for more comprehensive adaptive strategies to complement the current tendency to focus on the mitigation of greenhouse gases produced in this region.  相似文献   
107.
Various suggested definitions of the term “traceability” are discussed from the standpoint of proposed adoption and use of the concept by the International Organization of Legal Metrology.  相似文献   
108.
Deposition velocities have been determined for corn and soybeans in the first 4–6 weeks of growth in a full-scale study of canopy flow in a wind tunnel. Particles of 1, 5, 10 and 15 μm aerodynamic diameter made of sodium florescein were injected into the Environmental Wind Tunnel Facility at Colorado State University. Deposition velocities were determined as a function of free stream velocity (183, 305 and 610 cm/s) and approach flow turbulence intensity (~1% and 8%). Plants were arranged in realistic field configurations. Hot-wire anemometer studies confirmed that the fluid velocity profiles developed in the wind tunnel were similar to the flow realized in canopies in natural fields. An increase in velocity and turbulence intensity was found to decrease the deposition velocities. A minimum deposition velocity was observed at a particle diameter of 5 μm.  相似文献   
109.
The “filter model” has been developed to explain the biologic effects of radiation and chemicals. We have examined nearly 300 sets of dose response data, of which 50 are presented here. Responses (induced by radiation and chemicals) which have been examined include in vitro survival studies on animal and plant tissues, induction of cellular aberrations and time to tumor or death. Similar data from in vivo studies has also been examined. All of the data appear to fit the model R = a lnD + b(lnD)2 + c, where R is the response, a and b are parameters fitted by regression to a particular set of data, and c is the response at zero (or lowest) dose. By writing this model in exponential form, it can be seen that the response R results from multistage filtering (by net amounts a and b) of the initial dose, D. The threshold is obtained from this model as the point, D?T, at which the second derivative becomes zero. This is given by D?T = exp(1 ? a2b) when a and b are oppositelt signed.  相似文献   
110.
Resource estimates alone will not give advance warning of encroaching production difficulties. An analysis of the general stages in the evolution of petroleum production and discovery and of industry statistics provides an estimate of when the stage characterised by increasing production in the market economy countries outside the United States and Canada will end. The analysis indicates that the year of maximum production will be in the 1990s. Economic growth aggravates the difficulties accompanying the production decline by advancing the date of peak production and by increasing the adjustments that must be made as oil production declines. Des prévisions de ressources à elles seules ne constituent pas des signes précurseurs de difficultés croissantes de production. Une analyse des étapes générales marquant l'evolution de la découverte et de la production du pétrole ainsi que des statistiques industrielles nous permet de prévoir l'époque à laquelle prendra fin la phase de production accrue dans les pays à économie de marché en dehors des Etats-Unis et du Canada. Cette analyse révèle que l'année de production maximale se situera dans les années 90. La croissance économique accentue les difficultés qui accompagnent le déclin de la production de pétrole en avancant la date à laquelle cell-ci atteindra son plafond et en augmentant le nombre d'ajustements qui s'avèrent nécessaires au fur et à mesure qu'elle baisse. Las evaluaciones de recursos no dan por si solas un aviso anticipado de las dificultades de producción. Un análisis de las etapas principales en la evolución del descubrimiento y producción de petróleo y de las estadísticas industriales provee un estimado de cuando va a terminar la etapa caracterizada por un crecimiento de producción en los paises de economias de mercado otros que Estados Unidos y Canada. El análisis indica que el año de producción máxima se hallará en la década del 90. El crecimiento económico agrava las dificultades debidas a la declinación de la producción al adelantar la fecha de máxima producción (pico) y al aumentar los ajustes que deven hacerse cuando la producción de petróleos disminuye.  相似文献   
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