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排序方式: 共有373条查询结果,搜索用时 31 毫秒
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Rachèl V. van Schendel G. C. Page-Christiaens Lean Beulen Catia M. Bilardo Marjon A. de Boer Audrey B. C. Coumans Brigitte H. Faas Irene M. van Langen Klaske D. Lichtenbelt Merel C. van Maarle Merryn V. E. Macville Dick Oepkes Eva Pajkrt Lidewij Henneman for the Dutch NIPT Consortium 《黑龙江环境通报》2016,36(12):1091-1098
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Francesca Bardi Pien Bosschieter Joke Verheij Attie Go Monique Haak Mireille Bekker Esther Sikkel Audrey Coumans Eva Pajkrt Caterina Bilardo 《黑龙江环境通报》2020,40(2):197-205
Objectives
To give an overview of the genetic and structural abnormalities occurring in fetuses with nuchal translucency (NT) measurement exceeding the 95th percentile at first-trimester screening and to investigate which of these abnormalities would be missed if cell-free fetal DNA (cfDNA) were used as a first-tier screening test for chromosomal abnormalities.Methods
This is a national study including 1901 pregnancies with NT≥95th percentile referred to seven university hospitals in the Netherlands between 1 January 2010 and 1 January 2016. All cases with unknown pregnancy outcome were excluded. Results of detailed ultrasound examinations, karyotyping, genotyping, pregnancy and neonatal outcomes, investigation by a clinical geneticist and post-mortem investigations were collected.Results
In total, 821 (43%) pregnancies had at least one abnormality. The rate of abnormalities was 21% for fetuses with NT between 95th and 99th percentile and 62% for fetuses with NT≥99th percentile. Prevalence of single-gene disorders, submicroscopic, chromosomal and structural abnormalities was 2%, 2%, 30% and 9%, respectively.Conclusion
Although cfDNA is superior to the combined test, especially for the detection of trisomy 21, 34% of the congenital abnormalities occurring in fetuses with increased NT may remain undetected in the first trimester of pregnancy, unless cfDNA is used in combination with fetal sonographic assessment, including NT measurement. 相似文献35.
Mauro Mecozzi Demetria Cardarilli Eva Pietrantonio Marina Amici 《Chemistry and Ecology》2001,17(4):239-254
In this paper a method for the study of the qualitative similarity of extractable humic substance (EHS) in marine sediments based on the realisation of UV spectral library of EHS is described. the spectral library was built including the digitised spectra of humic substance extracted from several marine sediments (46 samples) and two samples of standard materials (lignin sulphonate and humic substance) in a Statistica data file. the data matrix was elaborated by means of different multivariate statistic techniques such as Cluster Analysis (CA), Principal Components Analysis (PCA) and the univariate technique Spectral Correlation Analysis (SCA). This approach allows us to show the contribution of different organic compounds (aromatic, lipid and acid) to the composition of EHS and moreover it evidences also the structural characteristics of EHS in terms of similarities in the qualitative composition of samples such as presence of terrestrial and/or vegetal contributions. the UV library is an objective tool to study the qualitative composition of EHS and it represents a complementary approach to the most common methods based on the application of spectroscopic (IR, 13CNMR), potentiometric and chromatographic techniques. 相似文献
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This paper reviews key challenges and opportunities addressed by the New York City Environmental Justice Alliance's (NYC-EJA) Waterfront Justice Project, a citywide campaign to promote climate resilience and sustainability in urban industrial waterfront communities of New York City. NYC-EJA is a non-profit membership-driven network linking grassroots organisations from low-income neighbourhoods and communities of colour in their struggle for environmental justice. The Waterfront Justice Project is documenting community vulnerability in the context of climate change impacts, sources of industrial pollution, and demographic and socio-economic trends. This campaign is enabling community-based organisations, environmental justice communities, city planners, local and state government agencies, local business-owners, and other stakeholders to work in partnership to achieve community resilience while advocating for local jobs and promoting best practices in pollution prevention. New York City's waterfront policies ease the siting and clustering of public infrastructure, water pollution control plants, waste transfer stations, energy facilities, and heavy manufacturing uses in six areas designated as Significant Maritime and Industrial Areas (SMIAs). The SMIAs are located in environmental justice communities, largely low-income communities and communities of colour, in the South Bronx, Brooklyn, Queens, and Staten Island. New York City's local waterfront land use and zoning policies create cumulative risk exposure not only to residents and workers in the host waterfront communities, but also, in the event of storm surge or sea-level rise, to neighbouring, upland communities. 相似文献
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We describe here a new type of method for isolation of rare cell populations in biological fluids. The method is based on the anthraquinone technology for covalent binding of molecules to a polymer surface. An anthraquinone molecule conjugated via a linker to an electrophilic group (AQ Immobilizer™ reagent, Exiqon A/S) is covalently bound to a polymer surface by UV irradiation. The electrophilic group of this AQ reagent can covalently bind a specific antibody directed against a specific cell marker. Applying a cell sample to the functional surface, the cells having the specific cell marker on the cell surface will bind to the antibody on the functional surface. Using this technique, even extremely small cell populations may be isolated. We succeeded in isolating fetal cells from maternal blood samples in the first trimester for chromosome defects genetic diagnosis. Copyright © 2003 John Wiley & Sons, Ltd. 相似文献