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Philippe Charron Delphine Héron Marcela Gargiulo Josué Feingold Jean-François Oury Pascale Richard Michel Komajda 《黑龙江环境通报》2004,24(9):701-703
Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disease that may cause premature sudden death, especially in teenagers and young adults. The recent progress in the molecular genetics of the disease has made genetic testing sometimes available in clinical practice. We report the case of a couple who still requested prenatal molecular testing after detailed information had been given through a multidisciplinary consultation. Prenatal diagnosis in HCM is associated with complex medical and psychological implications, in addition to general ethical considerations, as the potential value of the diagnosis is counterbalanced by the highly variable expression of the disease and the difficulty in predicting its evolution. The R403L mutation in the MYH7 gene had been previously identified in this family, characterized by a malignant form of HCM. In the specific context of this case, we decided to agree to the request of the parents and performed the prenatal diagnosis. To the best of our knowledge, this is the first report of a prenatal molecular diagnosis performed in the context of HCM. Copyright © 2004 John Wiley & Sons, Ltd. 相似文献
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P. M. Abou-Sleiman A. Apessos J. C. Harper P. Serhal R. M. L. Winston J. D. A. Delhanty 《黑龙江环境通报》2002,22(6):519-524
Neurofibromatosis type 2 (NF2) is a dominantly inherited cancer predisposition syndrome that is caused bymutations in the NF2 gene. We report here the first clinical preimplantation genetic diagnosis (PGD) forNF2. A protocol was developed to simultaneously amplify the mutation and a single nucleotide polymorphism (SNP) located within the gene. The mutation and polymorphism were analysed by simultaneous fluorescent single-strand conformation polymorphism (SSCP) on an automated DNA sequencer. The mutation, carried by the male partner, was a single base pair substitution affecting a splice site in intron 4 of the gene. The female partner was infertile due to polycystic ovary syndrome and would require IVF to conceive. The couple was found to be informative at a linked intragenic SNP situated in the 5′ untranslated region of the gene. The SNP was included in the assay to reduce the risk of misdiagnosis due to allele dropout (ADO). The couple underwent three cycles of treatment during which a total of 43 blastomeres were biopsied from 31 embryos. Amplification at both loci was obtained in 35 cells (81%). A total of five embryos were transferred, two in the first cycle, two in the second and one in the third. No pregnancy ensued. The results of the diagnoses indicated that, in this couple, the inheritance of the mutation may be non-Mendelian. Out of a total of 32 embryos tested only four were found not to carry the mutation. The reasons for this apparent skew remain unknown. Copyright © 2002 John Wiley & Sons, Ltd. 相似文献
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环境生物技术在微污染源水中的应用与展望 总被引:1,自引:0,他引:1
常规水处理难以有效去除微污染源水,以微生物选育、培养技术、遗传基因为基础的环境生物技术在微污染源水中起着重要的作用。分析了环境生物技术在开发基因工程菌、生物修复中的应用及潜力。 相似文献
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为解决洪涝灾害下城市应急避难场所选址优化问题,将洪涝灾害风险评估与选址模型相结合。首先,运用灰色模糊综合评价法对洪涝灾害风险进行评价,得到洪涝灾害风险综合指数。然后,将综合指数归一化处理后作为权重引入疏散距离最小化和覆盖人口最大化的目标函数,结合最小化避难所数量,以最大服务范围、容量作为约束,构建引入洪涝灾害综合风险权重的多目标应急避难场所选址优化模型,并采用遗传算法对模型进行求解。最后,以武汉市作为实证研究对象验证模型的科学性和有效性。研究结果表明:在考虑洪涝灾害风险的情况下,应急避难场所选址方案可在接近最优解的情况下达到最优。研究结果可为城市防洪应急避难场所布局优化提供参考。 相似文献
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Haihan Zhang Huiyan He Shengnan Chen Tinglin Huang Kuanyu Lu Zhonghui Zhang Rong Wang Xueyao Zhang Hailong Li 《环境科学学报(英文版)》2019,31(8):24-38
Wastewater treatment plants(WWTPs) are deemed reservoirs of antibiotic resistance genes(ARGs). Bacterial phylogeny can shape the resistome in activated sludge. However, the co-occurrence and interaction of ARGs abundance and bacterial communities in different WWTPs located at continental scales are still not comprehensively understood. Here, we applied quantitative PCR and Miseq sequence approaches to unveil the changing profiles of ARGs(sul1, sul2, tet W, tet Q, tet X), int I1 gene, and bacterial communities in 18 geographically distributed WWTPs. The results showed that the average relative abundance of sul1 and sul2 genes were 2.08 × 10~(-1) and 1.32 × 10~(-1) copies/16 S rRNA copies, respectively. The abundance of tet W gene was positively correlated with the Shannon diversity index(H′), while both studied sul genes had significant positive relationship with the int I1 gene. The highest average relative abundances of sul1, sul2, tet X, and int I1 genes were found in south region and oxidation ditch system. Network analysis found that 16 bacterial genera co-occurred with tet W gene. Co-occurrence patterns were revealed distinct community interactions between aerobic/anoxic/aerobic and oxidation ditch systems. The redundancy analysis model plot of the bacterial community composition clearly demonstrated that the sludge samples were significant differences among those from the different geographical areas,and the shifts in bacterial community composition were correlated with ARGs. Together,these findings from the present study will highlight the potential risks of ARGs and bacterial populations carrying these ARGs, and enable the development of suitable technique to control the dissemination of ARGs from WWTPs into aquatic environments. 相似文献