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排序方式: 共有491条查询结果,搜索用时 15 毫秒
1.
Jean-Marc Costa Alexandra Benachi Evelyne Gautier Jean-Marie Jouannic Pauline Ernault Yves Dumez 《黑龙江环境通报》2001,21(12):1070-1074
An Erratum has been published for this article in Prenatal Diagnosis 22(13) 2002, 1241. Fetal sex prediction can be achieved using PCR targeted at the SRY gene by analysing cell-free fetal DNA in maternal serum. Unfortunately, the results reported to date show a lack of sensitivity, especially during the first trimester of pregnancy. Therefore, determination of fetal sex by maternal serum analysis could not replace karyotype analysis following chorionic villus sampling. A new highly sensitive real-time PCR was developped to detect an SRY gene sequence in maternal serum. Analysis was performed on 121 pregnant women during the first trimester of pregnancy (mean gestational age: 11.8 weeks). Among them, 51 had at least one previous male-bearing pregnancy. Results were compared with fetal sex. SRY PCR analysis of maternal serum was in complete concordance with fetal sex. Among the 121 pregnant women, 61 were bearing a male fetus and 60 a female fetus. No false-negative results were observed. Furthermore, no false-positive results occurred, even though 27 women carrying a female fetus during the current pregnancy had at least one previous male-bearing pregnancy. This study demonstrates that a reliable, non-invasive sex determination can be achieved by PCR analysis of maternal serum during the first trimester of pregnancy. This non-invasive approach for fetal sex prediction should have great implications in the management of pregnant women who are carriers of an X-linked genetic disorder. Prenatal diagnosis might thus be performed for male fetuses only, avoiding invasive procedures and the risk of the loss of female fetuses. Copyright © 2001 John Wiley & Sons, Ltd. 相似文献
2.
Dr. J. F. Bruch P. Metezeau N. Garcia-Fonknechten Y. Richard V. Tricottet B.-L. Hsi A. Kitzis C. Julien E. Papiernik 《黑龙江环境通报》1991,11(10):787-798
Three monoclonal antibodies (MAbs) against trophoblast (GB17, GB21, and GB25) and flow cytometry were used to sort trophoblast-like cells (TLCs) from peripheral blood of pregnant women. Sorted TLCs were processed for electron microscopy and fetal DNA amplification of the Y-specific sequences from mothers carrying male fetuses. At the ultra-structural level, most of the nucleated cells had the morphology of leucocytes, suggesting maternal contaminants, and we did not find the characteristic features of the free inter-villous trophoblast cells. Nevertheless, polymerase chain reaction (PCR) analysis showed an amplification of Y-specific sequences in two out of three samples of sorted TLCs. These results suggest that besides the maternal leucocytes, sufficient trophoblast nucleated fetal cells can be obtained using cell enrichment by sorting. This sensitive method holds promise for non-invasive prenatal diagnosis of fetal sex and if sufficient Y(positive) nuclei are found, for the diagnosis of selected numerical chromosome abnormalities. 相似文献
3.
Dr Marianne Johansen Marian Knight Edward J. Maher Kim Smith Ian L. Sargent 《黑龙江环境通报》1995,15(10):921-931
Trophoblast deportation is known to occur in normal human pregnancy, but it is not yet clear whether these cells routinely enter the maternal peripheral circulation and are available as a source of fetal DNA for non-invasive prenatal diagnosis of genetic disorders. To resolve this issue requires an efficient method of enriching trophoblast from maternal blood combined with a means to confirm its identity. Five different techniques were tested on ten retroplacental blood samples to determine the most sensitive and operator-efficient method. Lysis of red cells alone gave the best recovery of trophoblast but had to be discounted, together with Ficoll density gradient centrifugation, due to the very low purity and the excessive time required. Fluorescence-activated cell sorting (FACS) of pre-enriched trophoblast resulted in the lowest recovery rate (8 per cent) despite a 3250-fold enrichment and a very high purity. Immunomagnetic beads (Dynabeads) coated with anti-CD 16 antibody proved to be the best method for the subsequent immunocytochemical characterization of deported trophoblast. However, IO beads coated with anti-CD45 antibody may be more useful for isolating trophoblast for prenatal diagnosis due to the high purity, enrichment (32-fold), and recovery rate (78 per cent) obtained with this method. 相似文献
4.
Dr Alan E. Donnenfeld Larry R. Glazerman Denise M. Cutillo Ronald J. Librizzi Stuart Weiner 《黑龙江环境通报》1989,9(5):301-308
Selective termination by intracardiac potassium chloride injection was performed in twins discordant for hydrocephaly at 20 weeks' gestation. Because of the potential for vascular anastomoses to exist between the twins, fetal angiography was performed prior to the selective termination procedure. Determination of vascular connections between the fetuses was hindered by fetal bradycardia following intracardiac administration of contrast material. Selective termination was performed without difficulty using intracardiac potassium chloride (KCl) to produce asystole in the twin with hydrocephaly. The unaffected fetus appeared active and had a normal heart rate during and immediately after the procedure. However, both twins were found to have died the following day. Pathologic examination documented several vascular anastomoses between the monochorionic, diamniotic fetuses. A likely cause of death was exsanguination of the normal twin into the abnormal one. This case illustrates the difficulties encountered in selective termination of monozygotic twins and, to our knowledge, represents the first reported use of intrauterine fetal angiography. 相似文献
5.
Richard J. Stock M.D. 《黑龙江环境通报》1982,2(2):133-137
A case of fetal death secondary to a needle laceration during a second trimester amniocentesis is presented. The need for careful pathologic evaluation of fetuses lost subsequent to these procedures is stressed. 相似文献
6.
Dr. Lauren Lynch James Bussel James D. Goldberg Usha Chitkara Isabelle Wilkins Jan Macfarland Richard L. Berkowitz 《黑龙江环境通报》1988,8(5):329-331
A case is presented in which percutaneous umbilical sampling (PUBS) was utilized in the second and third trimesters for the diagnosis and management of a pregnancy at risk for neonatal alloimmune thrombocytopenia (NAIT). 相似文献
7.
Yuen Tannirandorn Umberto Nicolini Peter C. Nicolaidis Nicholas M. Fisk Sabaratnam Arulkumaran Charles H. Rodeck 《黑龙江环境通报》1990,10(3):189-193
Twelve second-trimester fetuses with cystic hygroma underwent fetal blood sampling for rapid karyotyping, haematologic evaluation, and blood gas analysis. An abnormal karyotype was found in seven cases: monosomy X in five, trisomy 21 in one, and trisomy 13 in the other. Eight often fetuses undergoing blood gas analysis showed hypoxaemia, five of which were growth-retarded. Nine pregnancies were terminated. Of the remaining three, only one fetus survived the perinatal period. 相似文献
8.
本试验在10±1℃、不喂食条件下测定鲤鱼在30天受汞毒期间鳃、脑和肝胰脏蓄积汞和尾鳍微血管血流速度及30天解毒期间排出汞和血流速度的变化。试验结果:受毒期间鳃中汞的蓄积量最多,解毒期间鳃中汞的排出速度最快;受毒期间血流速度随受毒时间的延长而减慢,又随试验浓度的增高而减慢,解毒期间血流速度随解毒时间的延长而加快;受毒期间高浓度试验组鱼鳃、脑和肝胰脏中汞的蓄积量与血流速度呈负相关,解毒期间鱼鳃中汞的排出量与血流速度呈正相关,汞的浓度与血流速度呈负相关。 相似文献
9.
Emanuela Terzian Jillian Boreham Howard S. Cuckle Nicholas J. Wald Martin Bobrow Richard Lindenbaum A. C. Turnbull 《黑龙江环境通报》1985,5(6):401-414
A survey was conducted of the results of mid-trimester diagnostic amniocenteses in the Oxford Region from 1974 to 1981. The survey used data relating to all 4357 singleton pregnancies in which an amniocentesis was performed during this period. Follow-up information on outcome was obtained in respect of 4284 (98 per cent) pregnancies. A cell culture to determine karyotype and an alpha-fetoprotein determination was carried out in all cases. From 1974 to 1981 amniocenteses became increasingly common, rising from 2 to 32 per 1000 births. The most common indication for amniocentesis was a high risk of a chromosome abnormality–56 per cent of all amniocenteses. Within this group advanced maternal age was responsible for 89 per cent of the cases. The next most common indication was a high risk of a neural tube defect (37 per cent of all amniocenteses)–in 1974 a raised maternal serum alpha-fetoprotein level accounted for only 4 per cent of these; by 1981 this had risen to 67 per cent. There were seven false-positive and 132 true-positive diagnoses of neural tube defect; since 1981, with the introduction of amniotic fluid acetylocholinesterase determination as a secondary diagnostic test for neural tube defects, there have been no further false-positive diagnoses. In 1981 76 per cent of women aged 35 years or more did not have an amniocentesis. It is not known to what extent this was due to not offering women in this age group amniocentesis or to women not accepting such an offer. 相似文献
10.
Hurler's disease was excluded in a fetus at 23 weeks' gestation by demonstrating normal iduronidase activity in fetal leucocytes following failure of amniotic cell culture after amnic-centesis at 16 and 19 weeks' gestation. The diagnosis was confirmed in the neonate. 相似文献