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71.
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A twin pregnancy with trisomy 10 p due to a paternal 10;12 translocation is reported. The prenatal diagnosis steps followed in twin pregnancies are reviewed and the concordant features of trisomy 10 p seen in both fetuses confirm previous reports on the clinical features of this chromosomal defect. 相似文献
73.
Prenatal diagnosis of tetrasomy 12p is complicated by the discrimination of the 12p isochromosome from the duplication 21q as well as the level of mosaicism demonstrated in the particular tissue sampled. In this disease, a high percentage of chromosomally abnormal cells are generally found in fibroblastic cells, but lymphocyte karyotypes from the same individual may be normal. We report on the pregnancy of a 37-year-old female who presented to our centre at 16 weeks' gestation for genetic amniocentesis. Sonography of the fetus revealed dextrocardia and diaphragmatic hernia. Chromosome analysis of amniocytes demonstrated mosaicism of a 47,XY,+i(12p) line in 80 per cent of cells and a normal male line (20 per cent), consistent with the Pallister-Killian syndrome. Following termination, a 220 g male fetus of 18 weeks was examined. A flattened nose and low-set ears were noted. In situ hybridization with a chromosome 12 centromeric probe in lymphocytes and skin cells unequivocally confirmed the karyotype and showed the presence of a single centromere in the abnormal chromosome, suggesting a true isochromosome. Chromosome analysis of various fetal tissues was performed and the following percentages of abnormal cells were found: skin 100 per cent, chorion 50 per cent, placenta 30 per cent, and blood 80 per cent. The high frequency of tetrasomic cells in fetal blood at this early gestational age is noteworthy, since most reports of this syndrome show a very low percentage of abnormal cells postnatally. 相似文献
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A case of mosaic tetrasomy 12p was detected in amniotic fluid cell cultures from a 28-year-old woman referred to us at 26 weeks' gestation because of hydramnios. The fetus was shown on ultrasonography to have an omphalocele and a short femur length. Labour was induced at 32 weeks. An infant with multiple congenital anomalies was delivered and died after 10 min. The diagnosis of i(12p) or Pallister-Killian syndrome was confirmed cytogenetically in fibroblast and lymphocyte cultures. Increased LDH-B activity was demonstrated in fibroblasts. 相似文献
76.
Houda Karmous-Benailly Anne-Claude Tabet Adeline Thaly Olivier Dupuy Yolène Huten Dominique Luton Clarisse Baumann Anne-Lise Delezoide 《黑龙江环境通报》2005,25(3):193-197
Trisomy of the short arm of chromosome 4 is a well-known syndrome, and several observations have been made in the last 30 years. Herein, we report a new observation of trisomy 4p in a fetus with a semi-lobar holoprosencephaly (HPE), dysmorphic features and multiple malformations. The diagnosis of HPE was made, at 33 weeks' gestation, on the fetus of a healthy G1P0 woman. Amniocentesis was performed for chromosome analysis and additional material was found on a chromosome 22. The couple elected to terminate the pregnancy and fetal examination was realized. Conventional and molecular cytogenetic studies were performed on the fetus and the parents, which showed that the additional material found on one chromosome 22 corresponded to the short arm of chromosome 4 and therefore led us to establish a diagnosis of trisomy 4p inherited from the malsegregation of a paternal translocation t(4;22)(q12;q11.1). The etiology of HPE is very heterogeneous; it includes non-genetic factors such as maternal diabetes and genetic causes. HPE cases have been described in association with many chromosomal anomalies, trisomy 13 being the most frequent. However, to our knowledge, HPE has never been previously reported in association with a trisomy involving solely the short arm of chromosome 4. Copyright © 2005 John Wiley & Sons, Ltd. 相似文献
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采用以单箱模型法为基础的A值法对西安市大气容量进行估算,并将干沉降、湿沉降和化学转化三个消除过程引入模型测算中,借鉴国内外对于大气常规污染物的清除系数的科学研究成果,对研究区域的SO2、NO2、PM10及PM2.5等4项常规污染物的环境容量进行估算。结果表明,执行2012年新的环境质量标准下,西安市SO2、NO2、PM10及PM2.5大气环境容量分别为13.86×104吨/年,9.24×104吨/年、1.62×105吨/年及8.09×104吨/年。 相似文献
79.
类黑精是一种高分子难降解色素污染物质,在糖蜜酒精废水中大量存在.选取在前期研究中对糖蜜酒精废水具有较好脱色作用的黄曲霉(Aspergillus flavus)A5p1(保藏号CGMCC.4292),以合成的类黑精为对象研究脱色机理,试图为实际废水的生物脱色提供理论基础.结果显示,此菌株对合成类黑精具有生物吸附和生物降解的双重作用,以后者为主,最高脱色率可达65%.相较于漆酶、依赖/不依赖于锰的过氧化物酶等常规氧化脱色酶,此菌株中的产过氧化氢酶对脱色起主要作用,而且脱色过程中作为产过氧化氢酶之一的葡萄糖氧化酶与类黑精脱色率之间存在着一定的正相关性.添加葡萄糖氧化酶激活剂和抑制剂进行验证,发现葡萄糖氧化酶酶活力、过氧化氢产量和脱色率三者之间呈相关性变化.初步推测,葡萄糖氧化酶是黄曲霉A5p1生物降解脱色类黑精的关键酶之一. 相似文献