全文获取类型
收费全文 | 161篇 |
免费 | 0篇 |
国内免费 | 1篇 |
专业分类
环保管理 | 1篇 |
综合类 | 157篇 |
基础理论 | 1篇 |
污染及防治 | 2篇 |
社会与环境 | 1篇 |
出版年
2013年 | 1篇 |
2011年 | 4篇 |
2010年 | 5篇 |
2009年 | 3篇 |
2008年 | 1篇 |
2007年 | 8篇 |
2006年 | 14篇 |
2005年 | 6篇 |
2004年 | 11篇 |
2003年 | 8篇 |
2002年 | 8篇 |
2001年 | 8篇 |
1999年 | 1篇 |
1995年 | 14篇 |
1994年 | 13篇 |
1993年 | 9篇 |
1992年 | 6篇 |
1991年 | 6篇 |
1990年 | 6篇 |
1989年 | 8篇 |
1988年 | 2篇 |
1987年 | 5篇 |
1986年 | 1篇 |
1985年 | 1篇 |
1984年 | 8篇 |
1983年 | 2篇 |
1982年 | 2篇 |
1981年 | 1篇 |
排序方式: 共有162条查询结果,搜索用时 46 毫秒
11.
Farideh Z. Bischoff PhD Dorothy E. Lewis Joe Leigh Simpson Dianne D. Nguyen Jeffrey Scott Wendy Schober Sarah Murrell Sherman Elias 《黑龙江环境通报》1995,15(12):1182-1184
Recovering and analysing fetal erythrocytes from maternal blood is being pursued for non-invasive prenatal genetic diagnosis. We report the observation of 46, XY/47, XXY mosaicism in fetal cells from a woman whose first-trimester chorionic villus sampling (CVS) initially showed only 46, XY. Only after exhaustive (500 cells) analysis were four XXY cells found in cultured villi. 相似文献
12.
Accurate diagnosis of mosaicism in amniotic fluid cell cultures represents a major problem. If insufficient cells are analysed, true fetal mosaicism may go undetected. False-positive diagnosis is also possible since a second cell line may arise in vitro and not reflect the true fetal genetic constitution. These difficulties apply to both flask and in situ culture techniques, to varying degrees. The relative accuracy of flask versus in situ culture techniques in excluding mosaicism was determined by statistical analysis of experimental data from ten pairs of mixed male-female amniotic fluid specimens. The data support the idea that the majority of in situ colonies are independent of one another. The following conclusions are drawn: (1) analysis of a single metaphase from a number of different colonies enhances the confidence for excluding mosaicism; (2) analysis of more than one cell per colony offers little advantage; (3) exclusion of a given level of mosaicism requires analysis of fewer metaphases using the in situ method; (4) the confidence for excluding mosaicism is high with both in situ and flask techniques, using the provided guidelines; and (5) it is shown that the two-stage approach used by many laboratories is currently the most efficient way to exclude mosaicism. 相似文献
13.
Amniocyte clones from a mid-trimester pregnancy disclosed 45,X/46,XY sex chromosome mosaicism. Because of the uncertainty concerning the phenotype of the fetus, the parents elected to terminate the pregnancy. Mixed (asymmetrical) gonadal dysgenesis was not found. The fetus appeared to have a normal male uro-genital system. No malformations of any type were detected, although as expected, the fetus did have 45,X/46,XY mosaicism. 相似文献
14.
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
15.
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
16.
17.
Paolo Prontera Barbara Buldrini Vincenzo Aiello Rita Gruppioni Alessandra Bonfatti Giovanna Venti Alessandra Ferlini Alberto Sensi Elisa Calzolari Emilio Donti 《黑龙江环境通报》2006,26(6):571-576
We describe a 4-year-old female child with severe global mental retardation, myoclonic epilepsy, proximal hypotonia and dysmorphisms, whose prenatal diagnosis following amniocentesis revealed a constitutional female karyotype carrying a t(1;15)(q10;p11) familial reciprocal translocation. Post-natal high-resolution karyotype, Fluorescence in situ hybridization (FISH) screening for subtelomeric rearrangements, VNTR search for UPD15 in the blood and fibroblast, and WCP1 and 15 in the mother, failed to provide an explanation for the complex clinical phenotype of the proband. Since the pachytene configuration of the translocated chromosomes defines a high probability of 3:1 segregation, an extensive workup was undertaken to look for a possibly cryptic mosaicism. Four percent of the cells with trisomy 15 was found in the peripheral blood lymphocytes examined by classical cytogenetic technique and interphase FISH analysis. The clinical features associated with cryptic trisomy 15 mosaicism and the problems concerning prenatal diagnosis and genetic counselling for carriers of translocations at high risk of 3:1 segregation are discussed. Copyright © 2006 John Wiley & Sons, Ltd. 相似文献
18.
19.
20.