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91.
C. Marchese M.D. E. Savin E. Dragone F. Carozzi M. De Marchi M. Campogrande G. C. Dolfin G. Pagliano E. Viora A. Carbonara 《黑龙江环境通报》1985,5(3):221-227
Six cases of cystic hygromas detected during second trimester ultrasound examination are reported: 4 fetuses (67 per cent) had a 45, X karyotype, 1 fetus had trisomy 18, 1 fetus had a normal karyotype (46,XX) and at autopsy multiple anomalies were observed. In the latter case the family history suggested an autosomal recessive pattern of inheritance. In order to reach a definite diagnosis and give proper genetic counselling when a fetus is found to have cystic hygroma, a fetal karyotype as well as a family and reproductive history should be obtained. 相似文献
92.
A Framework for Monitoring and Evaluating Carbon Mitigation by Farm Forestry Projects: Example of a Demonstration Project in Chiapas,Mexico 总被引:1,自引:0,他引:1
De Jong Ben H.J. Tipper Richard Taylor John 《Mitigation and Adaptation Strategies for Global Change》1997,2(2-3):231-246
Mitigation and Adaptation Strategies for Global Change - In Mexico an estimated 4.5 × 106ha are available for farm forestry, while up to 6.1 × 106 ha could be saved from deforestation by... 相似文献
93.
Zandra C. Deans Anil Biricik Martine De Rycke Gary L. Harton Miroslav Hornak Farrah Khawaja Céline Moutou Jan Traeger-Synodinos Pamela Renwick 《黑龙江环境通报》2023,43(4):506-515
Objective
Genomics Quality Assessment has provided external quality assessments (EQAs) for preimplantation genetic testing (PGT) for 12 years for eight monogenic diseases to identify sub-optimal PGT strategies, testing and reporting of results, which can be shared with the genomics community to aid optimised standards of PGT services for couples.Method
The EQAs were provided in two stages to mimic end-to-end protocols. Stage 1 involved DNA feasibility testing of a couple undergoing PGT and affected proband. Participants were required to report genotyping results and outline their embryo testing strategy. Lymphoblasts were distributed for mock embryo testing for stage 2. Submitted clinical reports and haplotyping results were assessed against peer-ratified criteria. Performance was monitored to identify poor performance.Results
The most common testing methodology was short tandem repeat linkage analysis (59%); however, the adoption of single nucleotide polymorphism-based platforms was observed and a move from blastomere to trophectoderm testing. There was a variation in testing strategies, assigning marker informativity and understanding test limitations, some clinically unsafe. Critical errors were reported for genotyping and interpretation.Conclusion
EQA provides an overview of the standard of preimplantation genetic testing-M clinical testing and identifies areas of improvement for accurate detection of high-risk embryos. 相似文献94.
Ivonne Bedei Karl-Philipp Gloning Luc Joyeux Matthias Meyer-Wittkopf Daria Willner Martin Krapp Alexander Scharf Jan Degenhardt Kai-Sven Heling Peter Kozlowski Kathrin Trautmann Kai M. Jahns Annegret Geipel Ismail Tekesin Michael Elsässer Lucas Wilhelm Ingo Gottschalk Jan-Erik Baumüller Cahit Birdir Andreas Schröer Felix Zöllner Aline Wolter Johanna Schenk Tascha Gehrke Alicia Spaeth Roland Axt-Fliedner 《黑龙江环境通报》2023,43(2):183-191
Objective
Omphalocele is known to be associated with genetic anomalies like trisomy 13, 18 and Beckwith–Wiedemann syndrome, but not with Turner syndrome (TS). Our aim was to assess the incidence of omphalocele in fetuses with TS, the phenotype of this association with other anomalies, their karyotype, and the fetal outcomes.Method
Retrospective multicenter study of fetuses with confirmed diagnosis of TS. Data were extracted from a detailed questionnaire sent to specialists in prenatal ultrasound.Results
680 fetuses with TS were included in this analysis. Incidence of small omphalocele in fetuses diagnosed ≥12 weeks was 3.1%. Including fetuses diagnosed before 12 weeks, it was 5.1%. 97.1% (34/35) of the affected fetuses had one or more associated anomalies including increased nuchal translucency (≥3 mm) and/or cystic hygroma (94.3%), hydrops/skin edema (71.1%), and cardiac anomalies (40%). The karyotype was 45,X in all fetuses. Fetal outcomes were poor with only 1 fetus born alive.Conclusion
TS with 45,X karyotype but not with X chromosome variants is associated with small omphalocele. Most of these fetuses have associated anomalies and a poor prognosis. Our data suggest an association of TS with omphalocele, which is evident from the first trimester. 相似文献95.
Adánez-Rubio Iñaki Pérez-Astray Antón Abad Alberto Gayán Pilar De Diego Luis F. Adánez Juan 《Mitigation and Adaptation Strategies for Global Change》2019,24(7):1293-1306
Mitigation and Adaptation Strategies for Global Change - Bioenergy with carbon dioxide (CO2) capture and storage (BECCS) technologies represent an interesting option to reach negative carbon... 相似文献
96.
G. La Rosa Y. T. R. Proroga D. De Medici F. Capuano M. Iaconelli S. Della Libera E. Suffredini 《Food and environmental virology》2018,10(1):127-131
Shellfish samples (n = 384) from production areas, water samples from the same areas (n = 39) and from nearby sewage discharge points (n = 29) were analyzed for hepatitis E virus (HEV) by real-time and nested RT-PCR. Ten shellfish samples (2.6%) and five seawater samples (12.8%) tested positive for HEV; all characterized strains were G3 and showed high degree of sequence identity. An integrated surveillance in seafood and waters is relevant to reduce the risk of shellfish-associated illnesses. 相似文献
97.
M. Van Blerk MD J. Smitz L. De Catte C. Kumps J. Van Der Elst A. C. Van Steirteghem 《黑龙江环境通报》1992,12(12):1062-1066
This study explores if assay of cancer antigen 125 (CA 125) in maternal serum might aid the detection of Down's syndrome in the second trimester of pregnancy. CA 125 levels were determined retrospectively in stored maternal serum samples from ten Down's syndrome pregnancies and 78 controls matched for gestational and maternal age. In addition, second-trimester amniotic fluid samples from nine Down's syndrome and 109 unaffected pregnancies were analysed for CA 125. Maternal serum CA 125 values for Down's syndrome pregnancies were lower, with the median being 0.72 multiples of the unaffected population median. The medians for affected and unaffected pregnancies did not differ significantly and there was a considerable overlap in the range of values of cases and controls. The distribution of amniotic fluid CA 125 levels for Down's syndrome pregnancies resembled that for controls. From our present results, we could not find an association between Down's syndrome and second-trimester maternal serum or amniotic fluid CA 125 levels. 相似文献
98.
99.
Effects of atmospheric mercury pollution on terrestrial ecosystem in Chongqing, China 总被引:1,自引:0,他引:1
1 IntroductionMercury(Hg)asaglobalpollutanthascausedconcernworldwidesincetheendof 1980s.Itisemittedtotheatmospherefrombothanthropogenicandnaturalsources.Importantsourceoftheformeristhedischargefrom productionanduseofHgaswellasthecombustionoffossilfuels(Nri… 相似文献
100.
澳大利亚自然保护区系统与管理 总被引:7,自引:0,他引:7
澳大利亚是全球生物多样性最丰富的12个国家之一。于1879年4月26日建立的澳第一个国家公园是世界上第二个国家公园,澳保护区系统类型齐全,名称不一。大多数保护区由各州自行管理。 相似文献