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111.
112.
Irma Järvelä MD Juhani Rapola Leena Peltonen Lea Puhakka Jouni Vesa Pirkko Ämmälä Riitta Salonen Markku Ryynänen Pertti Haring Aki Mustonen Pirkko Santavuori 《黑龙江环境通报》1991,11(5):323-328
Eleven fetuses at risk for the infantile form of neuronal ceroid lipofuscinosis (INCL, CLN1) were studied using DNA markers and the results were compared with the results of electron microscopy (EM) of chorionic villus specimens from pregnancies in the first or early second trimester of pregnancy. In four cases, the prenatal diagnosis was made independently with both methods, and in seven cases, the EM diagnosis was confirmed postnatally or from autopsy material using RFLP analysis. The two methods gave concordant results in all cases. The DNA analysis based on RFLP haplotypes also for the first time facilitates reliable carrier diagnostics. RFLP analysis based on polymorphic markers closely linked to the INCL locus is now available for prenatal diagnosis of this fatal brain disease, whose biochemical background is totally unknown and for which no treatment is available. 相似文献
113.
Prenatal paternity testing was evaluated by DNA analysis in chorionic villus biopsies obtained during the 7th-22nd weeks of gestation. Using highly polymorphic variable number of tandem repeats (VNTR) probes, we analysed four cases consisting of mother/child/alleged father trios. In all cases, we were able to detect maternal and paternal alleles and could establish or exclude paternity. The application of DNA analysis represents a new important diagnostic aid for all cases that require a prenatal identification of paternity. 相似文献
114.
J. M. M. van Lith MD J. R. Beekhuis A. J. van Loon A. Mantingh B. T. H. M. de Wolf A. S. P. M. Breed 《黑龙江环境通报》1991,11(8):625-628
In order to gain more insight into the association between alpha-fetoprotein (AFP) and fetal chromosomal disorders, especially Down's syndrome, we measured AFP in fetal serum, amniotic fluid, and maternal serum at cordocentesis. We compared the concentration and gradient of AFP in these three compartments. Our data confirm earlier findings on second-trimester fetal serum AFP concentration. The results indicate that low maternal serum AFP in pregnancies with fetal chromosomal disorders could result from an impaired fetal kidney function as well as from impaired membrane or placental passage of AFP, rather than from reduced fetal AFP production. 相似文献
115.
Owen P. Phillips MD Lee P. Shulman Lisa A. Altieri R. Sidney Wilroy Donald S. Emerson John V. Dacus Sherman Elias 《黑龙江环境通报》1991,11(9):705-710
A 21 -year-old woman with progressively deforming or type III osteogenesis imperfecta (OI) presented for prenatal counselling and diagnosis at 10 weeks' gestation. Family history was non-contributory. At 14.8 weeks' gestation, ultrasonographic examination revealed fetal skeletal hypomineralization, easily compressible fetal cranium, and thickened long bones, indicating that the fetus was also affected. Confirmation of the prenatal diagnosis of OI type III was made following a Caesarean section birth of a male infant with multiple skeletal deformities and blue sclerae implying, in this case, autosomal dominant inheritance. 相似文献
116.
117.
A case of fetal loss due to infection after first-trimester chorionic villus sampling is described. The fetus was born at 18 3/7 weeks and showed an annular constriction of one of the arms as seen in the amniotic band sequence. Induction of congenital defects might be one of the complications of chorionic villus sampling. 相似文献
118.
F. J. Los MD PhD L. Pijpers M. G. J. Jahoda E. S. Sachs A. Reuss A. M. Hagenaars J. W. Wladimiroff 《黑龙江环境通报》1989,9(7):521-526
Volumes of feto-maternal transfusions (FMTs) in transabdominal chorionic villus sampling (TACVS) in the second trimester of pregnancy were calculated from the difference between maternal alpha-fetoprotein (AFP) concentrations before and 1 h after TACVS. In 50 pregnancies, there existed no correlation between FMT volume and the amount of villi collected or the number of TACVS attempts. The expected risk of fetal exsanguination due to very voluminous FMT could not be substantiated. In one case, immunization could have been the cause of hydrops fetalis, although only a volume of 0.15 ml could be calculated. 相似文献
119.
Magnetic resonance (MR) imaging was performed at 29 weeks of pregnancy after ultrasonographic detection of an abnormal cleft in the fetal brain. Fetal neuromuscular blockade was induced by pancuronium bromide injected into the umbilical vein under continuous ultrasound (US) guidance. MR images supported the echotomographic diagnosis of schizencephaly improving the visualization of symmetrical broad clefts connecting the lateral ventricles with the subarachnoid space. Schizencephaly was finally confirmed by neonatal US, computed tomography, and MR. 相似文献
120.
We report a female infant noted prenatally to have an umbilical cord mass. At birth, a labial strawberry haemangioma was noted. She subsequently developed an abdominal mass which was discovered to be a proliferating haemangioma, continuous with both the labial and the umbilical stump lesions. 相似文献