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排序方式: 共有108条查询结果,搜索用时 62 毫秒
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M. Schwartz M. Super J. Schmidtke C. Buys M. Farrall D. Halley M. Krawczak J. E. Poncin D. Loukopoulos M. Devoto 《黑龙江环境通报》1988,8(8):619-624
This paper presents data collected in Europe on 107 prenatal diagnoses of cystic fibrosis (CF) using linked DNA markers. To date, 38 children have been born without CF, as predicted, demonstrating the present rapid move from research to clinical genetic service. 相似文献
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Youfen Xu Zong Li Ruyin Liu Hongxia Liang Zhisheng Yu Hongxun Zhang 《Frontiers of Environmental Science & Engineering》2020,14(4):67
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Beryl R. Benacerraf 《黑龙江环境通报》2010,30(7):644-652
This review summarizes the development, history and use of second-trimester sonographic markers for the detection of fetal Down syndrome over three decades. Starting with the nuchal fold thickening in 1985 and culminating in the genetic sonogram in the 1990s. The combination of second-trimester serum screening with the ultrasound markers improved the detection rate of affected fetuses but also allowed patients to decrease their risk of carrying a fetus with Down syndrome if the genetic sonogram was normal. More recently the role of the genetic sonogram and its markers have changed with the wide spread use of first-trimester screening. This prior screening ultimately decreases the prevalence of fetal Down syndrome in the second trimester to less than 85% of what it was in the first-trimester as most fetuses with Down syndrome are now identified early. Current interpretation of the second-trimester Down syndrome markers must be based on the result of the first trimester and combined screening to achieve the most accurate risk estimate of an affected fetus. Copyright © 2010 John Wiley & Sons, Ltd. 相似文献
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E. Marchina G. Piovani L. Vezzola D. Bellotti V. Cerri C. Groli Prof. S. Barlati 《黑龙江环境通报》2003,23(12):959-963
A 40-year-old woman underwent amniocentesis at 15.3 weeks of gestation. Chromosome analysis performed using QFQ, DA-DAPI and CBG banding revealed two de novo extra-chromosomal markers (ESACs) in 11 of the 16 colonies analysed. Fluorescence in situ hybridization (FISH) showed that both chromosomes came from the Yq11.22.1 region of the Y chromosome. PCR analysis of genes and STS localized on the Y chromosome excluded the Yp presence specifically of the SRY gene, and most of the euchromatic region of Yq. After extensive genetic counselling and considering both laboratory and second-level ultrasound data, the couple decided to continue the pregnancy. At 37.4 weeks of gestational age, a girl weighing 2750 g was born with an Apgar score of 9/10. A blood sample taken from the umbilical cord showed three cellular lines:mos47,XX, +mar1 ish.der (Y)(wcpY+) [21%]/48,XX, +mar1 ish.der (Y)(wcpY+), +mar2 ish.der (Y)(wcpY+) [41%]/46,XX [38%]. One year after birth, the baby was developing normally and had normal psychomotorial activity. Copyright © 2003 John Wiley & Sons, Ltd. 相似文献
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Estimation of the maximal population frequency of “alien” biotypes taking into account a priori data
L. A. Zhivotovsky A. A. Pomortsev E. V. Lyalina B. A. Kalabushkin V. A. Pukhal’skii 《Russian Journal of Ecology》2005,36(2):89-92
A method is described for calculating the probability that the percentage of alien biotypes is higher than a specified threshold (e.g., 5%) in a population in which a certain number of alien biotypes has been found preliminarily. The method is based on the Bayesian approach; it assumes that the researcher has preliminary (a priori) information on the frequency of these biotypes. This a priori information makes it possible to estimate the aforementioned probability more accurately than is possible with the use of the standard binomial estimation. The method is illustrated by the results of the estimation of cultivar purity in batches of stock and foundation seeds of spring barley with the use of protein markers.Translated from Ekologiya, No. 2, 2005, pp. 106–109.Original Russian Text Copyright © 2005 by Zhivotovsky, Pomortsev, Lyalina, Kalabushkin, Pukhalskii. 相似文献