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251.
Eight patients were referred for prenatal diagnosis for suspected fetal cytomegalovirus infection (CMV): six for documented first-trimester infection and two for abnormal ultrasound evaluation suggestive of fetal infection. Three methods of diagnosis were employed: (1) amniotic fluid viral cultures and CMV-specific IgM in fetal serum; (2) amniotic fluid cultures and detection by polymerase chain reaction amplification of CMV-specific DNA in chorionic villi; and (3) detection of CMV-specific DNA in villus samples only. Amniotic fluid cultures detected all cases of infection, but CMV-specific IgM was not a reliable indicator of infection in any case. DNA analysis correlated well with both culture results and clinical outcome. 相似文献
252.
A cytogenetic survey and follow-up studies were made of 14 cases with supernumerary marker chromosomes, identified among 12 699 prenatal samples, investigated at our institution over a 10-year period from 1980 to 1990. FISH (fluorescence in situ hybridization) techniques were employed to identify the chromosomal origin of the marker chromosomes. Five cases were familial, all derived from acrocentric chromosomes, and all without apparent phenotypic effects in the children. Nine cases represented de novo aberrations. In two cases (one with a marker from chromosome 14 or 22, the other with a ring-like marker derived from chromosome 17), the pregnancies continued and apparently normal babies were delivered at term, but the child with a marker derived from chromosome 17 showed slight psychomotor retardation at 2 years of age. All other pregnancies with de novo markers were terminated. In three cases, significant abnormalities were found at autopsy. One of these had an isochromosome 12p and the phenotype was consistent with Pallister-Killian syndrome. In conclusion, marker chromosome identification, as well as clinical follow-up, is essential for the purpose of improving genetic counselling. 相似文献
253.
L. I. Van Der Ham T. E. Cohen-Overbeek H. D. Y Paz Geuze Chr. Vermeij-Keers MD PhD 《黑龙江环境通报》1995,15(12):1189-1192
The prenatal detection of scaphocephaly, an isolated form of craniosynostosis, is presented. The diagnosis was made at 34 weeks of gestation in a woman with polyhydramnios. The ultrasound appearance and postnatal follow-up are presented. 相似文献
254.
The association between ‘faint-positive’ amniotic fluid acetylcholinesterase and fetal malformations
Yoel Sadovsky MD Michelle L. Robbin Barbara F. Crandall Roy A. Filly Mitchell S. Golbus 《黑龙江环境通报》1993,13(11):1071-1074
The finding of a ‘faint-positive’ acetylcholinesterase band in amniotic fluid samples of women at 15 weeks' gestation or above is associated with an increased risk of fetal abnormalities, most commonly gastroschisis. This finding warrants a targeted sonographic evaluation, in order to rule out significant fetal malformations. 相似文献
255.
Prenatal diagnosis of Gaucher disease, the most prevalent glycolipid storage disease, is based on a reliable enzyme assay of cells from amniocentesis or chorionic villous samples. However, this method cannot differentiate among the various forms of the disease. This report details four cases of prenatal diagnosis of Gaucher disease, three of which predate the use of molecular diagnosis. DNA mutation analysis to determine the genotype was predictive of the phenotypic status of the fetus and conformed to the genotype of an affected proband where available. 相似文献
256.
Kinetic adsorption of application of carbon nanotubes for Pb(Ⅱ) removal from aqueous solution 总被引:2,自引:0,他引:2
Nassereldeen A Kabbashi Muataz A Atieh Abdullah Al-Mamun Mohamed E S Mirghami MD Z Alam Noorahayu Yahya 《环境科学学报(英文版)》2009,(4)
The capability of carbon nanotubes (CNTs) to adsorb lead (Pb) in aqueous solution was investigated. Batch mode adsorption experiment was conducted to determine the effects of pH, agitation speed, CNTs dosage and contact time. The removal of Pb(Ⅱ) reached maximum value 85% or 83% at pH 5 or 40 mg/L of CNTs, respectively. Higher correlation coeffcients from Langmuir isotherm model indicates the strong adsorptions of Pb(Ⅱ) on the surface of CNTs (adsorption capacity Xm = 102.04 mg/g). The results indicates tha... 相似文献
257.
258.
R. Achiron MD O. Pinhas-Hamiel S. Lipitz Z. Heiman B. Reichman S. Mashiach 《黑龙江环境通报》1994,14(7):523-526
Cytomegalovirus is the most common cause of congenital viral infection. In utero infection is usually suspected in patients with growth-retarded fetuses or when maternal illness precipitates serological investigations. A case is presented where routine ultrasound examination at 30 weeks' gestation in an asymptomatic patient demonstrated mild fetal ventriculomegaly. Transvaginal ultrasound enabled the visualization of intraventricular adhesions and small periventricular cysts. The suspected diagnosis of in utero cytomegalovirus infection was confirmed by the presence of IgM antibodies in fetal blood and subsequently by isolation of the virus from the infant's urine. The presence of mild fetal ventriculomegaly should prompt transvaginal brain imaging. 相似文献
259.
Cytomegalovirus (CMV) is the most common cause of congenital infection. Recent studies show amniocentesis to be a 100 per cent sensitive and 100 per cent specific predictor of congenital infection, and recommend that it be offered in the at-risk pregnancy. However, these publications have focused on pregnancies at or beyond 22 weeks' gestation. Here, we report a case of maternal CMV hepatitis at 7–8 weeks' gestation, in which culture and polymerase chain reaction testing for CMV in amniotic fluid at 20 weeks' gestation were negative, but the infant had a positive CMV urine culture shortly after delivery. Implications for the prenatal diagnosis of CMV infection are discussed. 相似文献
260.
We report the detection of 42 cases of musculoskeletal anomalies routinely screened by transvaginal sonography at 12-16 weeks of gestation out of 7325 examined pregnant women (incidence of 0·57 per cent). 相似文献