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11.
Pregnancies with fetal trisomy 21 have been associated with low amniotic fluid alpha-fetoprotein levels (AFAFP). This observation led to the suggestion that low AFAFP levels be used as a criterion for completion of a chromosomal analysis in patients who are not otherwise at increased risk for a fetal chromosome abnormality and in whom karyotyping might not have been completed for economic reasons. In order to assess the usefulness of such criteria, we reviewed the AFAFP levels of 90 cases of fetal trisomy 21, 23 cases of trisomy 18, and 10 cases of trisomy 13. These were compared with 2400 control samples with normal chromosome constitution. AFAFP levels were generally lower in pregnancies with trisomy 21, showing a median value of 0·72 MoM. However, 40 per cent of the trisomy 21 samples had AFAFP values greater than 0·8 MoM and 20 per cent were over 1·0 MoM. These data imply that over 50 per cent of Down syndrome cases might have been missed using a cut-off level of 0·70 MoM for completion of chromosome analysis. Using a higher cut-off level will leave only a small percentage of samples unkaryotyped. The distribution of AFP levels in trisomy 13 and 18 is no different from controls; we therefore believe that fetal karyotyping should be completed in every amniotic fluid sample obtained. 相似文献
12.
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
13.
In a retrospective survey, the incidence of neural tube defects in liveborn trimsomy 18 was found to be 6·2 per cent. Based on these data one would expect to find trisomy 18 in 1 of the 117 patients with myeloidysplasia; the incidence of trisomy 18 in dysraphic fetuses would be anticipated to be higher. These observations underscore the need for amniocentesis karyotyping of fetuses with neural tube defects, and the importance of careful examination of infants born with neural tube defects. 相似文献
14.
The index patient is a female fetus in which prenatal diagnosis of 8p trisomy was established after amniocentesis at 16 weeks of gestation. This fetus was the unbalanced product of a maternal translocation of 5q/8p (karyotype: 46,XX,t(5;8)(q35;pl 1). Internal malformations include an anomalous lobature of the right lung, a little and high atrio-ventricular communication, and an anomaly in the number and shape of the aortic semilunar valves. The possible relationship between the phenotype and the chromosomal abnormality is briefly discussed. 相似文献
15.
Cysts of the choroid plexus of the lateral ventricle can be detected in the fetus during routine scanning at 16–18 weeks' gestation with an approximate incident of one in every 120 pregnancies. It is likely that in a high percentage of cases cysts are bilateral and that their recent discovery is mainly due to improvements in imaging technology. Although the great majority of cases resolve and do not result in any morbidity, five cases of trisomy 18 and one case of trisomy 21 associated with fetal choroid plexus cysts have been reported. In this prospective study, choroid plexus cysts were detected in 42 fetuses, resulting in 40 normal infants and 2 cases of trisomy 18. It is concluded that there may be a relationship between fetal choroid plexus cysts and trisomy 18. In order to obtain a more precise and accurate result, a multi-centre prospective study is being organized. 相似文献
16.
应用液相色谱结合电化学检测技术,研究了标准石英粉尘和青石棉体外诱导DNA分子氧化损伤产生加合物8-羟基脱氧鸟苷的形成与机制。结果表明,石英粉尘和青石棉均可致DNA分子氧化损伤并形成8-羧基脱氧鸟苷,但青石棉作用强于石英粉尘;石英粉尘的青石棉对H2O2氧化DNA的催化能力有较大差异。标准石英粉尘和青石棉,具有直接的遗传毒性;两者诱导DNA分子形成强致突变的8-羧基鸟苷可能是其潜在致癌机制之一。 相似文献
17.
A 46,XX; 47,XX,+9; 47,XX, + ?mar karyotype was detected in an amniotic fluid cell culture and confirmed in a subsequent fetal blood sample from a 40-year-old woman. After termination of the pregnancy, none of the 186 mitoses obtained from a second blood sample was trisomic for chromosome 9 (p<0.001). Selection against cells containing trisomy 9 is postulated to explain the disappearance of the lymphocyte clone. 相似文献
18.
Rosa Cartolano Silvana Guerneri Roberto Fogliani Andrea Galimberti Umberto Nicolini 《黑龙江环境通报》1993,13(11):1057-1059
Trisomy 12 mosaicism diagnosed at 16 weeks' amniocentesis in a 42-year-old woman was not confirmed at 18 weeks' gestational age in amniotic fluid or fetal blood. Fetal skin biopsy performed at the same time did, however, allow the detection of trisomy 12 in 1 of 14 fibroblasts analysed. Fetal skin biopsy can be included within the diagnostic procedures to be performed when a level III mosaicism is found in the amniotic fluid. 相似文献
19.
Mosaic trisomy 9 was detected in an amniotic fluid cell culture from a 40-year-old woman evaluated because of advanced maternal age. After counselling, parents elected to terminate the pregnancy. On autopsy the fetus was found to have hydrocephalus and a single kidney. The diagnosis of trisomy 9 mosaicism was confirmed in cultured skin fibroblasts. This is the third reported case of trisomy 9 mosaicism diagnosed prenatally. 相似文献
20.