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The short-stature homeobox-containing gene (SHOX) on chromosome Xp22.3 was recently identified as an important determinant of the stature phenotype. Deletions of the SHOX gene, some of them due to structural chromosome abnormalities, have been described in patients with idiopathic short stature and Leri-Weill syndrome. Additionally, haploinsufficiency of SHOX is a main cause for short stature seen in patients with Turner syndrome. Here we report an unusual X-chromosome abnormality, which was detected during a fetal karyotyping performed because of a previous child with Down syndrome. GTG banding demonstrated an extra chromosome segment on the terminal part of the short arm of chromosome X in the index case (karyotype: 46,X,Xp+). The same chromosomal abnormality was found in the mother and the maternal grandmother. All carriers of this chromosomal abnormality presented with short stature but no other associated symptoms. Whole chromosome painting of X revealed a homogeneous painting of the abnormal X chromosome indicating that no other chromosome was involved. Additional FISH studies with probe DXS1140 (Kallmann probe at Xp22.3), Quint-Essential X-Specific DNA (DMD probe at Xp21.2), XIST (at Xq13.2), and Tel Xq/Yq were performed, and no abnormality was observed in the intensities or the localizations of the probes signals. However, applying a specific SHOX gene probe (derived from cosmid LLNONO3M34F5) showed a loss of signal on the derivative X chromosome. Our results show that the Xp+ generation led to a deletion of the complete SHOX gene and caused short stature in the presented family. Copyright © 2003 John Wiley & Sons, Ltd. 相似文献
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目的研究飞机某结构模拟试样加速腐蚀试验与自然暴露试验的相关性。方法选取飞机某结构模拟试样分别进行实验室加速腐蚀试验和海南西沙外场自然暴露试验,以宏/微观形貌、失光率、色差等级、腐蚀产物成分等作为评价指标,对试样表面涂层的腐蚀损伤情况进行长期观测和对比研究,对加速腐蚀2个周期和户外暴露2年的疲劳试样疲劳寿命和疲劳断口形貌进行对比分析。结果加速腐蚀试验2个周期和自然暴露试验2年试样的试验过程色差变化规律一致,色差变化等级均为2级,光泽度变化规律一致,加速腐蚀试验后为3级,户外自然暴露户外为4级、棚下为3级,在螺钉边缘均出现面漆剥落现象。7B04铝合金试样疲劳寿命断口的韧窝和孔洞的数量都没有发生明显的变化,在显著度为0.05时,两组疲劳寿命的t检验量为1.6971,疲劳寿命无显著差异。结论加速腐蚀试样表面涂层的腐蚀程度介于户外和棚下暴露试样之间,这一结果与加速环境谱的编制原则相一致,也进一步表明加速试验环境谱正确性。疲劳寿命无显著差异,表明加速腐蚀试验可以较好地模拟飞机实际工作环境对试样疲劳性能造成的影响。 相似文献
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Beáta Holečková Katarína Šiviková Ján Dianovský Martina Galdíková 《Journal of environmental science and health. Part. B》2013,48(12):1080-1088
To date, most data about the possible genotoxic effect of triazole pesticides are focused on laboratory animals resulting in limited information on further non-target organisms such as cattle. The objective of the present study was to investigate the effect of triazole (tebuconazole/prothioconazole) fungicide formulation on the induction of chromosomal aberrations (CAs), sister chromatid exchanges (SCEs) and DNA fragmentation in bovine cultured lymphocytes. Our results showed that the fungicide formulation did not induce significant number of CAs in bovine cells after 24 h treatment. Nevertheless, the dose-dependent reduction of mitotic division was observed, with the strongest effect at 30.0 μg mL?1 in both donors (P < 0.01 and P < 0.001, respectively). Prolonged 48 h exposure caused the increased level of breaks in treated cultures (3.0?15.0 μg mL?1; P < 0.05) and significant decrease in mitotic index (MI). The tested fungicide failed to produce any statistical changes in the SCE frequency neither after 24 h nor 48 h treatment. However, the significant decline of the proliferation index (PI) was observed after 24 h indicating the fungicide influence on cell cycle kinetics. Prolonged 48 h exposure caused cytotoxicity reflecting in lower PI value relative to control mainly at the highest fungicide concentrations (30.0 μg mL?1, P < 0.001). Using painting probes for bovine chromosomes 1, 5 and 7 (BTA1, BTA5 and BTA7) only low levels of aneuploidies were detected. Significant increase of polyploidy cells (P < 0.05) was induced by a 3.0 μg mL?1 dose of the fungicide after 48 h. DNA fragmentation assay didn't reveal the presence of DNA nucleosome ladder in cell cultures at any time (24 h and 48 h) and fungicide concentration. 相似文献
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Non-mosaic trisomy 22 is a common cause of first trimester miscarriage and has a livebirth incidence of 1 in 30 000–50 000. Consequently there is a paucity of information for counselling parents. Detection in the second trimester is rare. It is commonly associated with severe growth retardation and multiple structural abnormalities. Oligohydramnios is frequently seen and can make detection of other abnormalities difficult. The outlook is uniformly poor and survival beyond the first trimester may present management dilemmas. A thorough fetal assessment including high-resolution cytogenetics with or without FISH is required for counselling. Careful plans for intrapartum and neonatal management may be necessary. The recurrence risk is thought to be low but information is very limited as there have been no reported cases of recurrence. We present two case of non-mosaic trisomy 22 including the first to be diagnosed subsequent to investigation for a high serum screening Down's risk. Copyright © 2006 John Wiley & Sons, Ltd. 相似文献