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71.
Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype
CS Benton R de Silva SL Rutledge S Bohlega T Ashizawa HY Zoghbi 《Canadian Metallurgical Quarterly》1998,51(4):1081-1086
OBJECTIVE: To screen for the SCA-7 mutation in autosomal dominant cerebellar ataxia (ADCA) families and study genotype/phenotype correlations. BACKGROUND: The association of cerebellar ataxia and progressive pigmentary macular dystrophy clinically defines a distinct form of ADCA classified as SCA-7. SCA-7 is caused by expansion of a highly unstable CAG repeat that lies in the coding region of a novel gene on chromosome 3p12-13. METHODS: We screened 51 ADCA kindreds, in which SCA-1, SCA-2, SCA-3, and SCA6 mutations had been excluded, for the SCA-7 mutation using primers that specifically amplify the SCA-7 CAG repeat. RESULTS: The SCA-7 mutation was identified in 10 independent families. Normal alleles ranged from 7 to 16 repeats; expanded alleles ranged from 41 to 306 repeats. One allele with 36 repeats was found in an asymptomatic individual carrying an at-risk haplotype. SCA-7 presents a wide spectrum of clinical features including visual loss, dementia, hypoacusia, severe hypotonia, and auditory hallucinations. Juvenile SCA-7 occurs on maternal and paternal transmission of the mutation, whereas the infantile form occurs only on paternal transmission. An infant of African American descent carried the largest SCA-7 expansion (306 CAG repeats) and had severe hypotonia, congestive heart failure, patent ductus arteriosus, cerebral and cerebellar atrophy, and visual loss. CONCLUSION: These data show a wide spectrum of phenotypic abnormalities in SCA-7 and define an infantile phenotype caused by the largest CAG repeat expansion described to date. 相似文献
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Soluble interleukin-6 receptor (sIL-6R) has previously been shown to potentiate the activity of interleukin (IL)-6, which may display antitumor activity. We evaluated sIL-6R and IL-6 levels in the sera of 24 patients following transplantation (allogeneic, n=17; autologous, n=7). Five patients developed acute graft-versus-host disease (AGVHD), three had early graft rejection, and three had an early relapse following bone marrow transplantation (BMT). Soluble IL-6R levels were evaluated at day - 10, day 0, day of engraftment, and during BMT-related complications, using IL-6R-specific monoclonal antibodies (mAb) and double-sandwich ELISA. In normal controls, sIL-6R and IL-6 levels were 20+/-3 ng/ml and 0.01+/-0.005 ng/ml, respectively. Soluble IL-6R levels increased in direct correlation with engraftment in the uneventful allogeneic transplants (17.7+/-2.1 ng/ml at day 0 to 49.7+/-2.6 ng/ml at day of engraftment, n=6, P<0.05) as well as in the autologous transplants (26.8+/-2.82 at day 0 to 66.4+/-12.9 at day of engraftment, n=5, P=0.01). In contrast, IL-6 levels declined with time during the conditioning period and showed only a modest elevation following BMT. Increased levels of sIL-6R and IL-6 were found in the patients who developed AGVHD (23.8+/-4.2 and 0+/-0 ng/ml at day 0 to 79+/-6.9 and 0.26+/-0.04 ng/ml, respectively, at time of AGVHD, n=5, P=0.01). No correlation was found between the severity of AGVHD and sIL-6R levels. In the three patients with early relapse, sIL-6R levels increased from 30+/-0 ng/ml at day 0 to 90 ng/ml (P=0.05) and IL-6 levels increased from 0 to 0.16+/-0 ng/ml, respectively. The mean elevation of sIL-6R in the patients with early relapse and AGVHD was significantly higher than the mean elevation in the patients with the relatively smooth engraftment (P<0.05). Contrary to these findings, in the three patients with graft rejection, sIL-6R levels decreased while IL-6 was found to be elevated. Basic disease, conditioning regimen, type of transplant, GVHD propylaxis, and T cell depletion had no effect on sIL-6R or IL-6 levels. In summary, sIL-6R levels positively correlated with engraftment. Both sIL-6R and IL-6 levels were found to be significantly elevated in patients who developed AGVHD or early relapse following BMT. Therefore, the sIL-6R level may be used as a tool for assessing engraftment and transplant-related complications following BMT. 相似文献
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R. J. Hodges F. P. Benton D. R. Hall R. dos Santos Serdio 《Journal of Stored Products Research》1984,20(4):191-197
The reduction in mating of Ephestia cautella caused by permeation of the atmosphere with synthetic sex pheromone components was investigated in the laboratory and store. In the laboratory the three main components of the pheromone complex were tested either singly or in combination, and (Z, E)-9,12-tetradecadienyl acetate (ZETA) was found to be the most effective. Field trials were carried out in simulated cocoa stores with four different initial application rates of ZETA and two moth population densities. The concentration of airborne pheromone was measured, and the emergence of the F1 generation was used to assess the degree of reproductive control. Decreased numbers of copulating pairs were observed in the stores treated with pheromone, and F1 emergences were reduced by 91 to over 99% when population densities of moths of 0.1–0.3 moths/m2 surface area were exposed to pheromone concentrations of 4–10 μg/m3. The results provide a basis for investigation of the effects of factors such as method of pheromone application and store conditions on the effectiveness of this control technique. 相似文献
77.
Schroder D.K. Choi B.D. Kang S.G. Ohashi W. Kitahara K. Opposits G. Pavelka T. Benton J. 《Electron Devices, IEEE Transactions on》2003,50(4):906-912
We have made recombination and generation lifetime measurements on silicon p-epitaxial layers on p/sup +/ and on p-substrates. The recombination lifetimes are dominated by surface/interface recombination for layers only a few microns thick. By coupling measurements of p/p with those of p/p/sup +/ samples, it is possible to extract the epi-layer lifetime. For p/p/sup +/ samples, recombination lifetimes are poorly suited to characterize epi-layers. Generation lifetime measurements are eminently suitable for epi-layer characterization, since carrier generation occurs in the space-charge region confined to the epitaxial layer, and when coupled with corona charge/Kelvin probe, allow contact-less measurements. 相似文献
78.
William J. Benton Clarence A. Miller Robert L. Wells 《Journal of the American Oil Chemists' Society》1987,64(3):424-433
Optical microscopy and differential scanning calorimetry were used to study the behavior of dilute aqueous systems containing
mixtures of a long-chain cationic surfactant and long-chain fatty alcohols. Both alcoholrich particles with a lamellar structure
and crystalline fibers containing considerable surfactant were observed, the fibers becoming more prevalent with decreasing
values of the alcohol-to-surfactant ratio r. For values of r exceeding about two, separate fibrous and particulate regions
were seen, the latter forming continuous networks throughout individual samples and hence contributing to the viscoelastic
properties known to characterize these formulations. Studies of system behavior as a function of temperature showed that melting
temperatures of the fibers and particles were about 55 C and 60 C, respectively. 相似文献
79.
Benton Stephen L.; Glover John A.; Monkowski Paul G.; Shaughnessy Michael 《Canadian Metallurgical Quarterly》1983,75(5):727
Seven experiments were performed with 260 college students to address 3 questions: (a) Do prose decisions of different levels of difficulty affect relatively good and relatively poor readers in the same way? (b) Do difficult decisions have their effect because of a "directed attention effect?" and (c) Must difficult decisions appear in the context of less difficult decisions in order for them to have a facilitative effect on recall of prose? Results indicate that both good and poor readers benefited from making difficult decisions in much the same way. Time was not an important factor in recall, and difficult decisions affected recall in the absence of "directed attention effects." Less difficult decisions were not necessary in order for difficult decisions to be effective. It was also found that levels of questions and levels of difficulty both influenced recall. (48 ref) (PsycINFO Database Record (c) 2010 APA, all rights reserved) 相似文献
80.
Benton Arthur L.; Hartman Clarence H.; Sarason Irwin G. 《Canadian Metallurgical Quarterly》1955,51(2):295
The relationships between certain formal aspects of speech behavior and anxiety level, as defined by score on the Taylor Scale of Manifest Anxiety, are investigated. Interpretations of TAT cards for two groups of Ss, one "high anxious" and the other "low anxious" as determined by the Taylor scale, are scored for verb/adjective quotient, number of adjectives per 100 words, total number of words, latency, and number of words per minute. For all five measures, the "high anxious" groups showed higher scores; however, only the predicted difference in total word count, and the predicted difference in latent time, approached statistical significance. (PsycINFO Database Record (c) 2010 APA, all rights reserved) 相似文献