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221.
Jui-Der Liou Chih-Ping Chen W. Roy Breg John C. Hobbins Maurice J. Mahoney Teresa L. Yang-Feng 《黑龙江环境通报》1993,13(1):1-8
From September 1984 to April 1991, we performed cytogenetic analysis on fetal blood samples from 214 second-and third-trimester pregnancies. One hundred and thirty-four cases were referred to consider the possibility of chromosomal mosaicism following amniocyte studies. The confirmation rate of mosaicism is at 0 per cent (0/9), 1·4 per cent (1/70), and 40 per cent (22/55) for cases of level I, level II, and level III mosaicism, respectively. Four out of 17 cases were positive for the diagnosis of fragile X syndrome. Of 63 cases with abnormal ultrasound findings, blood disorders, or other genetically related clinical conditions, 11 were found to have a chromosome abnormality. Fetal blood sampling is a valuable adjunct to other methods in the prenatal diagnosis of chromosomal mosaicism or pseudomosaicism. It is also useful when rapid cytogenetic diagnosis is desired because of malformations detected in pregnancies at a late gestational age. 相似文献
222.
Dr Simon E. Meagher Nicholas M. Fisk Jonathan G. Harvey Geoffrey F. Watson Antheunis Boogert 《黑龙江环境通报》1993,13(6):495-501
Congenital bronchopulmonary malformations detectable on prenatal ultrasound include cystic adenomatoid malformation (CAM), lobar sequestration, and upper airway atresia. We describe three fetuses with prenatally detected intrathoracic lesions in which the associated pulmonary hyperechogenicity disappeared before delivery. In the first case of pulmonary sequestration, the infant was asymptomatic after birth. However, in a case of CAM and another with laryngeal atresia, respiratory distress developed after delivery, despite recent scans showing apparently normal lung fields. This experience suggests that ultrasonic resolution of hyperechogenic lung lesions in utero does not necessarily indicate resolution of the underlying pathology. 相似文献
223.
This study highlights the health status of frogs in coffee plantations of Western Ghats. Coffee is one of the major commercial crops in the Western Ghats of India. In these plantations, farmers extensively use agrochemicals including pesticides and synthetic fertilisers. The practice of agrochemical usage can negatively affect non-target organisms like amphibians. The area has reported many amphibian species living in and around plantations. A total of 334 frogs from reference sites (10 abnormal frogs) and a total of 258 frogs (19 abnormal frogs) were collected from contaminated sites. We considered major biomarkers like hepato-somatic index, gonado-somatic index, morphological abnormalities and acetylcholinestarse activities for evaluating the health status of frogs. In our study, the hepato-somatic index and gonado-somatic index were found to be higher in a grochemical contaminated sites. Whereas, acetycholine esterase activity in brain and liver tissues of frogs in contaminated sites were low compared to reference sites. High rate of incidence of morphological abnormality (7.36%), increased hepato-somatic index (14.86%) and gonado-somatic index (male; 8.88% and female; 17.51%) and low acetylcholine esterase activities in brain (41.5%) and liver (46.9%) indicates the lower health status of frogs living in coffee plantations that are regularly treated with agrochemicals. 相似文献
224.
Virginia L. Corson Roger C. Sanders Timothy R. B. Johnson Jr. Kevin J. Winn 《黑龙江环境通报》1983,3(1):47-51
Two cases are reported in which an unusual ultrasound finding preceded diagnostic amniocentesis and led to further work-up. In both cases a decision was made to terminate the pregnancy. One fetus in which a neck mass was detected by ultrasound was shown to be normal on post-mortem examination. The second fetus was aborted because of Rh sensitization and had the abnormality seen by ultrasound. However, this lesion, calcified intrahepatic plaques, had no presumed pathological significance. These cases suggest caution in the interpretation of results obtained with the new technologies used for prenatal diagnosis. 相似文献
225.
Fetoscopy and fetal blood sampling were performed in an attempt at prenatal monitoring of a pregnancy at risk for infantile hereditary agranulocytosis (Kostmann's disease). In smears of fetal blood three segmented neutrophils were found out of 200 nucleated cells (1 2/ per cent). Their presence, although in a lower percentage than in six age-matched controls, was considered to indicate that the fetus was not affected. The newborn infant has developed normally and at the age of four months has a normal number of segmented neutrophils in his peripheral blood. Feasibility of prenatal diagnosis of infantile hereditary agranulocytosis is discussed. 相似文献
226.
A 37 year-old woman with a twin pregnancy underwent amniocentesis to exclude fetal chromosome abnormality. The results indicated that both fetuses were mosaics, with 45,X and 46,XX, cell lines. Since it was suspected from the ultrasound scan that the twins were dizygotic, the result was questioned. Fetoscopy and fetal blood sampling were performed and karyotyping the fetal lymphocytes confirmed that one twin was indeed a mosaic, 45,X/ 46,XX, but the other had a normal male chromosome complement. The pregnancy resulted in the birth of a phenotypically normal girl, in whom the 45,X/46,XX mosaicism was confirmed, and a normal boy. 相似文献
227.
Dr. C. Metaxotou A. Antsaklis P. Panagiotopoulou Ch. Tsenghi M. Benetou A. Mavrou N. Matsaniotis 《黑龙江环境通报》1983,3(2):173-175
The fetal karyotype was determined in 42 out of 45 cases from fetal blood obtained by fetoscopy for prenatal diagnosis of β-thalassemia. The procedure described is quick and reliable and it is recommended for women over 35 years of age undergoing prenatal diagnosis for haemoglobinopathies. 相似文献
228.
A routine study of the fetal karyotype was performed on samples obtained at 64 fetoscopic procedures. In 13 cases only pure amniotic fluid was available for the cultures, while in the remaining 51 cases the chromosome analysis was carried out on PHA-stimulated lymphocyte microcultures set up with any excess fetal blood above the requirements for globin-chain synthesis. Karyotype could be determined on fetal lymphocytes in 44 cases (86 per cent). All the fetuses were chromosomally normal. This experience shows that cytogenetic analysis using microaliquots of fetal blood is a relatively simple technique which should be introduced into routine prenatal diagnosis by fetoscopy. 相似文献
229.
Paula R. Scarbrough Beatrice Files Andrew J. Carroll R. William Quinlan Sara C. Finley Wayne H. Finley 《黑龙江环境通报》1988,8(3):169-174
Relatively few cases of deletion 1q have been reported. These cases have been divided into three groups according to assigned breakpoints. They include proximal interstitial, intermediate interstitial, and terminal deletions. We present a male infant with an interstitial deletion of 1q with breakpoints determined by GTG banding as q25 and q32. Comparison with similar case reports suggests common physical features which include microcephaly, growth retardation, developmental delay, clinodactyly, and genital anomalies in affected males. However, no characteristic phenotypic appearance is definable. The infant also presented with prune belly sequence (PBS) with Potter fades. Fetal ascites, as noted in this case on prenatal ultrasound, appears to be an early factor in the pathogenesis of PBS. Therefore, detection of fetal ascites should suggest the presence of the PBS association and the need for more extensive prenatal evaluation. 相似文献
230.
In a case of fetal anaemia due to pure red cell anaemia (Blackfan-Diamond syndrome), two-dimensional fetal Doppler echocardiography revealed an altered blood flow velocity pattern with entire incorporation of the atrial contraction component in the early passive filling phase of the right ventricle. Intracardiac blood velocities were increased, whereas cardiac output was only moderately increased. The fetal heart rate was normal. It is concluded that in fetal anaemia the compensatory mechanisms are limited and restricted to an increase in stroke volume. The hypothesis that chronic fetal anaemia is associated with ‘high output cardiac failure’ corresponds well with the present findings. The technique described may prove to be useful in the early diagnosis of fetal anaemia. 相似文献