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Cardiac anomalies may occur in isolation or can be part of a genetic syndrome. In this article, we describe some of the genetic syndromes commonly associated with cardiac anomalies where there are other sonographic features that may aid accurate prenatal diagnosis. Copyright © 2004 John Wiley & Sons, Ltd. 相似文献
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Frans J. Los MD PhD Diane Van Opstal Martin P. Schol Johannes L. J. Gaillard Helen Brandenburg Ans M. W. Van Den Ouweland Peter A. In 'T Veld 《黑龙江环境通报》1995,15(12):1155-1159
A prenatally detected case of a rare mosaic tetrasomy 12p/trisomy 12p is reported, presenting as the well-known accessory isochromosome 12p and a supernumerary single 12p marker in 17/24 and 6/24 clones of cultured amniotic fluid cells, respectively. The chromosomal nature of both marker chromosomes was investigated in cultured amniotic fluid cells by fluorescent in situ hybridization with various probes: the 12-centromeric probes pa12H8 and D12Z3, a whole chromosome 12 paint, and the chromosome 12p-specific paint M28. DNA analysis revealed a maternal origin of the extra 12p material. After counselling, the parents requested termination of pregnancy. Inspection and autopsy of the fetus revealed many of the dysmorphisms and internal structural abnormalities of the Pallister–Killian syndrome. 相似文献
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Dr. Linda A. Cannizzaro Barbara K. Hecht Helen A. Bixenman Stephen Pazdziorko Robert Tamis Frederick Hecht 《黑龙江环境通报》1988,8(4):297-301
We report herein a de novo unbalanced chromosome translocation in a fetus resulting from in vitro fertilization technology. Prenatal diagnostic analysis of an amniotic fluid revealed a 46,XX,4p+ karyotype. The origin of the extra material on the short arm of chromosome 4 could not be identified by a variety of banding techniques. However, examination of fetal parts did reveal some dysmorphic features. 相似文献
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Pasan Samarasin Brian J. Shuter Stephen I. Wright F. Helen Rodd 《Conservation biology》2017,31(1):126-135
Accurate understanding of population connectivity is important to conservation because dispersal can play an important role in population dynamics, microevolution, and assessments of extirpation risk and population rescue. Genetic methods are increasingly used to infer population connectivity because advances in technology have made them more advantageous (e.g., cost effective) relative to ecological methods. Given the reductions in wildlife population connectivity since the Industrial Revolution and more recent drastic reductions from habitat loss, it is important to know the accuracy of and biases in genetic connectivity estimators when connectivity has declined recently. Using simulated data, we investigated the accuracy and bias of 2 common estimators of migration (movement of individuals among populations) rate. We focused on the timing of the connectivity change and the magnitude of that change on the estimates of migration by using a coalescent‐based method (Migrate‐n) and a disequilibrium‐based method (BayesAss). Contrary to expectations, when historically high connectivity had declined recently: (i) both methods over‐estimated recent migration rates; (ii) the coalescent‐based method (Migrate‐n) provided better estimates of recent migration rate than the disequilibrium‐based method (BayesAss); (iii) the coalescent‐based method did not accurately reflect long‐term genetic connectivity. Overall, our results highlight the problems with comparing coalescent and disequilibrium estimates to make inferences about the effects of recent landscape change on genetic connectivity among populations. We found that contrasting these 2 estimates to make inferences about genetic‐connectivity changes over time could lead to inaccurate conclusions. 相似文献
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Helen M. Regan Clara I. Bohórquez David A. Keith Tracey J. Regan Kurt E. Anderson 《Conservation biology》2017,31(2):459-468
Population viability analysis (PVA) is a reliable tool for ranking management options for a range of species despite parameter uncertainty. No one has yet investigated whether this holds true for model uncertainty for species with complex life histories and for responses to multiple threats. We tested whether a range of model structures yielded similar rankings of management and threat scenarios for 2 plant species with complex postfire responses. We examined 2 contrasting species from different plant functional types: an obligate seeding shrub and a facultative resprouting shrub. We exposed each to altered fire regimes and an additional, species‐specific threat. Long‐term demographic data sets were used to construct an individual‐based model (IBM), a complex stage‐based model, and a simple matrix model that subsumes all life stages into 2 or 3 stages. Agreement across models was good under some scenarios and poor under others. Results from the simple and complex matrix models were more similar to each other than to the IBM. Results were robust across models when dominant threats are considered but were less so for smaller effects. Robustness also broke down as the scenarios deviated from baseline conditions, likely the result of a number of factors related to the complexity of the species’ life history and how it was represented in a model. Although PVA can be an invaluable tool for integrating data and understanding species’ responses to threats and management strategies, this is best achieved in the context of decision support for adaptive management alongside multiple lines of evidence and expert critique of model construction and output. 相似文献
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Due to a number of factors outlined in this article, the issue of population growth is excluded from the sustainability discussion. In this article, we explore some of the ethical presumptions that underlie the issues linking population growth and sustainability. Critics argue that action to address population creates social and economic segregation, and portray overpopulation concerns as being “anti-poor,” “anti-developing country,” or even “antihuman.” Yet, de-linking demographic factors from sustainability concerns ignores significant global realities and trends, such as the ecological limits of the Earth, the welfare and long-term livelihood of the most vulnerable groups, future prospects of humanity, as well as the ecosystems that support society. 相似文献