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41.
S. Savas S. Eraslan S. Kantarci B. Karaman D. Acarsoz T. Tükel O. Cogulu F. Ozkinay S. Basaran K. Aydınlı M. Yuksel-Apak B. Kirdar 《黑龙江环境通报》2002,22(8):703-709
Childhood-onset spinal muscular atrophy (SMA) is one of the most common neurodegenerative genetic disorders. SMN1 is the SMA-determining gene deleted or mutated in the majority of SMA cases. There is no effective cure or treatment for this disease yet. Thus, the availability of prenatal testing is important. Here we report prenatal prediction for 68 fetuses in 63 Turkish SMA families using direct deletion analysis of the SMN1 gene by restriction digestion. The genotype of the index case was known in 40 families (Group A) but unknown in the remaining 23 families (Group B). A total of ten fetuses were predicted to be affected. Eight of these fetuses were derived from Group A and two of these fetuses were from Group B families. Two fetuses from the same family in Group A had the SMNhyb1 gene in addition to homozygous deletion of the NAIP gene. One fetus from Group A was homozygously deleted for only exon 8 of the SMN2 gene, and further analysis showed the presence of both the SMN1 and SMNhyb1 genes but not the SMN2 gene. In addition, one carrier with a homozygous deletion of only exon 8 of the SMN1 gene was detected to have a SMNhyb2 gene, which was also found in the fetus. To our knowledge, these are the first prenatal cases with SMNhyb genes. Follow-up studies demonstrated that the prenatal predictions and the phenotype of the fetuses correlated well in 33 type I pregnancies demonstrating that a careful molecular analysis of the SMN genes is very useful in predicting the phenotype of the fetus in families at risk for SMA. Copyright © 2002 John Wiley & Sons, Ltd. 相似文献
42.
Environmental factors have long been shown to influence species distributions, with range limits often resulting from environmental
stressors exceeding organism tolerances. However, these abiotic factors may differentially affect species with multiple life-history
stages. Between September 2004 and January 2006, the roles of temperature and nutrient availability in explaining the southern
distributions of two understory kelps, Pterygophora californica and Eisenia arborea (Phaeophyceae, Laminariales), were investigated along the coast of California, USA and the Baja California Peninsula, Mexico,
by limiting either: (a) tissue nitrogen uptake and storage by adult sporophytes during periods of elevated temperature, and/or
(b) production of embryonic sporophytes by microscopic gametophytes. Results suggest that while adult sporophytes of both
species are tolerant of high temperatures and low nutrients, reproduction by their microscopic stages is not. Specifically,
while E. arborea produced embryonic sporophytes at both 12 and 18°C, temperatures commonly observed throughout the southern portion of its
range, P. californica produced sporophytes at 12 but not at 18°C. As a result, it appears that the southern distribution of P. californica, which ends in northern Baja California, Mexico, may be limited by temperature acting on its microscopic stages. In contrast,
the ability of E. arborea’s microscopic and adult stages to tolerate elevated temperatures allows it to persist in the warmer southern waters of Baja
California, as well as to the north along the California coast where both species co-occur. 相似文献
43.
Tone River supplies most of the water requirements of the Tokyo Metropolitan Area (TMA). Lowering of Tone flow and yearly
fluctuation, however, is causing water shortage along TMA nowadays. This study investigated the future water availability
scenarios under climatic changes. A state-of-the-art approach to utilize the output of several GCM has been demonstrated to
investigate the future water availability scenarios for TMA from the Tone River. An integrated modeling approach for water
balance considering several hydrological risk indices was adopted to quantify the future changes in this case. It is observed
that the future summer precipitation along the Tone basin is going to be increased considerably, while an almost constant
or decreasing trend is observed for winter season. Natural flow availability for winter or spring seasons thus can be crucial
under future scenarios. After reservoir routing, the hydrological risk indices estimated, however, were not found to be changed
significantly due to the presence of a robust reservoir system at the upstream. 相似文献
44.
Ricardo Braun 《Environment, Development and Sustainability》2007,9(4):387-411
The implementation of sustainable development may seem a simple concept when written on paper. However to carry-out long term
actions put forward by the Agenda 21 (AG21) at the local level represents one of the main challenges as municipal governments
in general do not have the capacity to effectively implement the process.
Regional environmental assessment (REA) has shown to be effective in supporting decision-making not only to correct environmental
problems due to past unsustainable social-economic developments but also help local governments to implement sustainable actions.
However this requires long-term investments of AG21 plans and projects. The allocation of regular and consistent financial
resources is one of the main ingredients for the sustainable development process. But traditional plans and projects financed
by national and/or international funds may not be sustainable in the long-term because they become dependent on external funding.
Research demonstrate that innovative economic instruments such as ecotaxes represent a feasible alternative to sponsor local
sustainability because taxes are collected permanently by the government and could be invested in continuous actions. Ecotaxes
experiences have provided important reference to structure a municipal incentive model (MIM) to sponsor AG21’s environmental
plans and projects on a long-term (permanent) basis.
However sustainable development cannot be solely through economic investments. A comprehensive municipal environmental management
scheme (MEMS) has been established to support the incentive model. The scheme seeks not only to improve local institutional
framework but also incentive continuous participation of local stakeholders at all levels of society. Participatory events
and the provision of incentives (educational and financial) are key to motivate society to protect the environment and support
actively the sustainable development process as emphasised in the RIO-92 Conference. 相似文献
45.
46.
Community evacuation following a chlorine release, Mississippi 总被引:1,自引:0,他引:1
On 7th September 1986, four miles north of Collins, Mississippi, a train transporting chlorine derailed. Two cars ruptured and gas escaped. As a result, 100 families were evacuated. To study the evacuation process, we conducted person-to-person interviews with sixty-two families staying in the evacuation center. Only 52.5% of the families received their first directive to evacuate directly from police or other officials. Delays in evacuating tended to be shorter when people were warned by the police and were told the reason for evacuating. Lack of personal transportation and preexisting health problems resulted in delays in evacuation. Concerns about evacuation included fear of looting, lack of a place to go, lack of transportation, difficulty in moving with children and elderly persons, and the need to take care of pets. One third of the interviewees reported feeling panic. Community evacuation procedures would be improved if: (1) officials contact all households directly; (2) the warning message addresses people's concerns; and (3) transportation is provided. 相似文献
47.
B. McNELIS 《Natural resources forum》1986,10(4):363-372
After several years of experimentation and demonstration, photovoltaic (PV) power is now firmly established for certain applications where reliable power is required in remote locations. The technology has recently matured to the point where PV is now an appropriate, cost-effective technology for village use. This paper reviews experience and presents economic comparisons between photovoltaic and conventional power systems. It is concluded that PV is cost-effective for individual home lighting and small loads such as radios, when compared with kerosene lamps and batteries. For mutiple uses PV is cost-effective compared with diesel generators for daily electricity demands up to around 20 kWh, depending on local conditions. 相似文献
48.
T. Antoniadi C. Yapijakis P. Kaminopetros C. Makatsoris V. Velissariou D. Vassilopoulos M. B. Petersen 《黑龙江环境通报》2002,22(5):425-429
The presence of maternal cells in fetal samples constitutes a serious potential source for prenatal misdiagnosis. Here we present our approach for detecting maternal cell contamination (MCC) at prenatal diagnosis for eight monogenic disorders (autosomal recessive: β-thalassaemia, sickle-cell anaemia, cystic fibrosis, prelingual deafness; autosomal dominant: achondroplasia, Huntington disease, myotonic dystrophy, neurofibromatosis type I; X-linked: spinobulbar muscular atrophy). Our aim was to apply a simple and low-cost approach, which would easily and accurately provide information on the fetal tissue MCC status. MCC testing was applied to cases of recessive inheritance where the primary mutation screening of the fetus revealed the presence of the maternal mutation, to cases concerning dominant inheritance and to cases of multiple gestation. The potential presence of maternal cells was determined by the amplification of the 3′-HVR/APO B, D1S80, THO1 and VNTRI of vWf polymorphic loci, which have previously demonstrated high heterozygosity in Caucasians. Among 135 prenatal diagnoses, 44 finally needed to be tested for MCC (32.6%). MCC was detected in four cases, where DNA was isolated directly from chorionic villi samples (CVS), and in one case with DNA isolated directly from amniotic fluid (AF). In almost 90% of cases a simple test of one polymorphic locus provided sufficient information about MCC. The choice of the appropriate locus is therefore essential, while the simultaneous screening of both parents provides the means for distinguishing non-informative sites about MCC. Copyright © 2002 John Wiley & Sons, Ltd. 相似文献
49.
B. A. Kerrigan 《Marine Biology》1997,127(3):395-402
The effects of food availability, female size, and social interactions on the quality of Pomacentrus amboinensis larvae at hatching were examined using two field-based experiments. In Experiment 1, food availability and female size significantly
influenced size, eye diameter and levels of yolk reserves of larvae at hatching. Small females (47 to 52 mm standard length,
SL) whose diets were not supplemented, produced the longest larvae (3.0 ± 0.01 mm total length, TL) with the least yolk reserves
(50.1 ± 1.04 μm2). Irrespective of female size, those that received additional food produced larvae with the largest yolk-sacs (large females:
87.60 ± 1.53 μm2; small females: 80.14 ± 1.24 μm2). In Experiment 2, interactions with conspecifics had a greater affect on the somatic development of larvae at hatching than
food availability. Increased social interactions resulted in larvae that were ⋍3% longer, with 2% greater head depth, than
larvae from females that spawned in isolation on the experimental reefs. Fed females produced larvae with ⋍20% more yolk than
larvae from females whose diets were not supplemented. All three factors (food availability, female size, and intensity of
social interactions) tested within these experiments vary spatially and temporally among reefs. There is the potential, therefore,
for larvae at the onset of the planktonic stage to vary in quality, level of development, and probability of survival.
Received: 12 August 1996 / Accepted: 26 August 1996 相似文献
50.