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801.
Maternal serum human chorionic gonadotropin (hCG) and the free alpha-hCG subunit were evaluated in 249 women from 9 to 11 weeks gestation who subsequently underwent chorionic villus sampling for determination of fetal karyotype and in 20 women of 18 or more weeks gestation who were ascertained to have an aneuploid fetus by genetic amniocentesis. Seven of the first-trimester pregnancies were determined to be aneuploid and six had hCG levels in the normal range (one triploid pregnancy had elevated hCG levels) whereas 12 of the 20 secondtrimester cases had abnormal hCG levels and an additional three had elevated levels of alpha-hCG. This study confirms the previous report of abnormal maternal serum hCG levels in women with an aneuploid fetus at ≥ 18 weeks gestation and demonstrates that hCG evaluation is not useful at 9–11 weeks gestation for selecting pregnancies at risk for fetal aneuploidy. 相似文献
802.
Y. Menashe MD G. Ben Baruch O. Rabinovitch Y. Shalev M. B. M. Katzenlson E. Shalev 《黑龙江环境通报》1989,9(11):805-808
Prenatal real-time ultrasonographic diagnosis of exophthalmus is presented. Diagnosis was made at the 35th week of gestation in a fetus of a patient affected with Crouzon syndrome (craniofacial dysotosis). Recognition of exophthalmus as a part of Crouzon syndrome and the easy visualization of the eye balls and palpebrae in the third trimester made the diagnosis possible. 相似文献
803.
The objective of the study was to evaluate the psychological reaction of two groups of parents to a pregnancy termination after they had undergone a prenatal diagnostic procedure. The analysis involved interviews with a study group of 76 patients who were at risk of giving birth to a child with a genetic disease or defect and a comparison group of 124 who had a pregnancy termination after a major anomaly had been detected by routine ultrasound and who were not at known risk for a genetic disease. Only patients in the study group had received counselling before the prenatal diagnosis and were aware that the fetus could be affected. The overall reaction of the comparison group was one of shock, denial of fetal abnormality, and guilt over ‘abandoning the fetus’. A feeling of guilt was expressed by patients in the comparison group (73 per cent versus 29 per cent) in the period immediately following the interruption. One-third of patients in both groups felt obliged to undergo a therapeutic abortion. More patients in the study group than in the comparison group expressed the need to see a psychiatrist at the time of the study (19 per cent versus 7 per cent) and viewed future pregnancies as a replacement for the lost pregnancy (63 per cent versus 19 per cent). The recommendations of the study focus on information sessions to personnel, nursing support, analgesia during the expulsion period, an atmosphere of respect that should be present at the time that the fetus is viewed, the anticipation of mourning, and the long-term follow-up of the couple to ensure that counselling for future pregnancies and psychological support are provided when needed. 相似文献
804.
Grant A. Mitchell MD Cornelis Jakobs K. Michael Gebson Marie-France Robert Alberto Burlina Carlo Dionisi-Vici Louis Dallaire 《黑龙江环境通报》1995,15(8):725-729
We report the first molecular prenatal diagnosis of 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency. The proband had a classic but severe presentation with hypoketotic hypoglycaemia and acidosis, secondary mental retardation, and epilepsy, and HL deficiency was documented in cultured fibroblasts. We found him to be homozygous for the frameshift mutation N46fs (+1), which yields a distinct pattern on single-strand conformation polymorphism (SSCP) analysis. In two subsequent pregnancies, molecular prenatal diagnosis was performed using SSCP. In the first, chorionic villus biopsy was normal. In the second pregnancy, amniocentesis revealed an affected fetus. In both pregnancies, the diagnosis was confirmed enzymatically. HL activity was less than 7 per cent of control values in amniocytes and fetal liver of the affected pregnancy. In the second pregnancy, amniotic fluid metabolite measurements by stable isotope dilution-selected ion monitoring mass spectrometry showed greater than 100-fold increases of 3-hydroxy-3-methylglutaric acid and of 3-methylglutaconic acid levels compared with controls. 相似文献
805.
The spontaneous resolution of cystic hygromas in fetuses with trisomy 18 may be due to a delay in lymphatic-vascular anastomosis. The severity of growth delay with trisomy 18 appears to be variable in time of onset and extent. 相似文献
806.
Bor-Ching Sheu Ming-Kwang Shyu Li-Hui Tseng Chi-Jen Lin Fon-Jou Hsieh MD 《黑龙江环境通报》1995,15(11):1075-1077
Prenatal sonographic diagnoses of two cases of severe limb defects after first-trimester chorionic villus sampling (CVS) are presented. Pathological examination after elective termination correlated well with the prenatal sonographic findings. Although the relationship between CVS and limb defects remains controversial, careful ultrasound examination for possible limb defects in cases receiving CVS is recommended. 相似文献
807.
J. W. Wladimiroff MD Professor of Obstetrics & Gynaecology R. Heydanus P. A. Stewart T. E. Cohen-Overbeek Ch. Brezinka 《黑龙江环境通报》1993,13(7):545-549
Colour Doppler flow mapping of the renal arteries and subsequent pulsed Doppler measurement of impedance to flow in these vessels were attempted in 33 fetuses with postnatally confirmed renal pathology. The majority presented with unilateral or bilateral hydronephro-sis (n = 21) and bilateral renal agenesis (n = 8). Renal artery blood flow could be visualized in all, except for the eight cases of bilateral renal agenesis. Bilateral flow velocity recordings were collected in six out of 12 cases of bilateral hydronephrosis and in five out of nine cases of unilateral hydronephrosis. The pulsatility index (PI), as a measure of downstream impedance, was in the normal range in 16 out of 18 kidneys (88 per cent) in bilateral hydronephrosis and in 12 out of 14 kidneys (85 per cent) in unilateral hydronephrosis. The PI was significantly higher in severe hydronephrosis compared with mild hydronephrosis. In four cases of unilateral multicystic kidney, the PI was always higher on the affected side. Colour Doppler flow mapping and pulsed Doppler evaluation may be helpful in our understanding of renal vascularization in renal pathology and in confirming the diagnosis of renal agenesis. 相似文献
808.
Out of 13 252 cases in which fetal bilateral echogenic kidneys were detected by transvaginal sonography between 12 and 18 weeks' gestation, there were nine fetuses where oval hypoechogenic masses were detected in the renal bed. In five fetuses where hypoechogenic masses in the renal bed were sonographically visualized, postabortal examination was compatible with renal agenesis and the hypoechogenic masses proved to be enlarged adrenals. In three additional cases, unilateral renal agenesis was accompanied by unilateral enlarged adrenals, radiologically confirmed postnatally. In one case, a false-positive sonographic diagnosis of Potter syndrome was made because of bilateral hypoechogenic masses in the renal bed. Postabortal examination detected hypoplastic kidneys, but of normal histology, in a dyskaryotic fetus with trisomy 22. In four cases of renal agenesis, the amniotic fluid was of normal volume until the 17th week. In two of the five cases of Potter syndrome, a cystic structure, compatible with the urinary bladder, was detected in the pelvis at 14 weeks. The diagnostic criteria for renal agenesis in the early fetus differ from those used in the second half of gestation. 相似文献
809.
A case of in utero closure of the ductus arteriosus was detected by Doppler echocardio-graphy at 31 weeks of gestation. It presented as a non-hydropic distressed fetus with ultrasound detection of tricuspid regurgitation. Pulsed Doppler ultrasound showed markedly decreased blood flow through the tricuspid and pulmonary valves and absent blood flow at the ductus arteriosus. These, as well as the resultant increased right-to-left shunting across the foramen ovale, were reaffirmed by colour flow mapping. 相似文献
810.
Herbert Valensise MD PhD Concettina Civitella Giuseppe Gioele Garzetti Carlo Romanini 《黑龙江环境通报》1992,12(9):705-708
Amiodarone treatment in pregnancy might be difficult to handle because of the long half-life of the drug (14–28 days up to 2 months) and because it reduces maternal and neonatal thyroid activity. Although short-term use in pregnancy has been described in cases of fetal supraventricular tachycardia, there are few reports on the chronic use of the drug. In this paper we describe our experience with amiodarone treatment in two pregnant sisters with familial dilatative cardiomyopathy and ventricular malignant extrasystole. Prolonged administration of amiodarone (400–200 mg/die) since the beginning of pregnancy did not have any adverse effects; maternal and neonatal thyroid function was normal, as was the neurological and motor development of the neonates. 相似文献