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The CAG expansion responsible for Huntington's disease (HD) is followed by an adjacent polymorphic CCG repeat region which may interfere with a PCR based diagnosis. We have sequenced this region in 52 unrelated HD patients, from both normal and HD chromosomes. Fifty percent of the normal alleles were (CCG)7(CCT)2, 48% (CCG)10(CCT)2, and 2% (CCG)7(CCT)3. In contrast (CCG)7(CCT)2 was found in 85% of the HD alleles which represents significant linkage disequilibrium with the HD mutation.  相似文献   
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We collected several samples of fresh snow from the areas of southern New Mexico and western Texas. Samples were analyzed to determine graphitic carbon content of snow in rural and urban areas and to compare these present values with those obtained from deep ice core samples several thousand years old. To model the optical properties of snow grains containing carbon we used several different versions of effective medium approximations. Calculations are compared with microwave analog measurements to determine which of these approximations can reasonably well predict the properties of mixtures such as snow and carbon. Suggestions regarding which of the effective medium approximations that should not be used are presented.  相似文献   
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Smoke emission factors, (i.e., the mass of smoke per mass of fuel burned), were measured in 11 separate experiments. The size distribution of the smoke particles was determined using a cascade impactor. The percentages of “black” carbon (also called “graphitic” or “elemental” carbon) and organic carbon have been determined for all the experiments as a function of particle aerodynamic diameter. Values in the range of 0.1%–0.2% are reported for the smoke particle emission factors for Douglas fir whole wood and plywood burning under well-ventilated conditions. Approximately 65% of the particles have aerodynamic diameters less than 1 μm. Douglas fir whole wood gave smoke emission factors in the range of 2%–3.5% when burned under poorly ventilated conditions representative of a building fire that is limited by air entrainment. For this case the size distribution was much broader, with substantial quantities of particles up to 5-μm aerodynamic diameter. For all ex periments, the black carbon content represented between 50% and 75% of the total mass of the smoke particles. The smoke emission factor for burning asphalt roofing shingles is reported as 12.1% with a black carbon content greater than 70%. Over half of the mass consisted of particles of less than 1-μm aerodynamic diameter.  相似文献   
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We investigated the molecular basis of a severe form of early onset autosomal recessive muscular dystrophy with sarcoglycan (SG) deficiency in seven large Gypsy families living in different parts of Western Europe and apparently not closely related. They were linked to the LGMD2C locus (13q12) suggesting a primary defect in the gamma-SG gene coding for the 35 kDa dystrophin-associated glycoprotein. All of the 18 investigated patients were homozygous for the same G-->A transition in codon 283 producing the replacement of a conserved cysteine of the extra-cellular domain of the protein by a tyrosine. All affected chromosomes in homozygous and heterozygous relatives carried the same allele 5 of the intragenic marker D13S232. Flanking markers were studied to delineate a common ancestral haplotype, the size of which was used to compute the date of the founding mutation. We found evidence that the mutation occurred between 60 and 200 generations ago, therefore possibly predating the commonly accepted date of migration of the Gypsy ancestors out of India.  相似文献   
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This paper presents a model, synthesized from the literature, of factors that explain how business analytics contributes to business value. It also reports results from a preliminary assessment of that model. The model consists of two parts: a process and a variance model. The process model depicts the analyze‐insight‐decision‐action process through which use of an organization's business analytic capabilities is intended to create business value. The variance model proposes that the five factors in Davenport et al.'s DELTA model of business analytics success factors, six from Watson & Wixom and three from Seddon et al.'s model of organizational benefits from enterprise systems, assist a firm to gain business value from business analytics. A preliminary assessment of the model was conducted using data from 100 customer success stories from vendors such as IBM, SAP and Teradata. Our conclusion is that the business analytics success model is likely to be a useful basis for future research.  相似文献   
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Extrusion of foods is an emerging technology for the food industries to process and market a large number of products of varying size, shape, texture, and taste. Extrusion cooking technology has led to production of wide variety of products like pasta, breakfast cereals, bread crumbs, biscuits, crackers, croutons, baby foods, snack foods, confectionery items, chewing gum, texturized vegetable protein (TVP), modified starch, pet foods, dried soups, dry beverage mixes etc. The functional properties of extruded foods plays an important role for their acceptability which include water absorption, water solubility, oil absorption indexes, expansion index, bulk density and viscosity of the dough. The aim of this review is to give the detailed outlines about the potential of extrusion technology in development of different types of products and the role of extrusion-operating conditions and their effect on product development resulting in quality changes i.e physical, chemical, and nutritional, experienced during the extrusion process.  相似文献   
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The concept of “nuclear winter” has been postulated with a number of assumptions regarding the smoke produced by post-nuclear-exchange fires. Whether nuclear winter would occur in the aftermath of a nuclear exchange depends largely on the quantity and character of smoke generated, its distribution in the atmosphere, and its optical characteristics. Since most of the current information is derived from small-scale experiments with little or no correlating data for larger scales on the order of actual buildings, a series of 11 medium-scale experiments with representative urban fuels, such as wood and asphalt roofing shingles, have been conducted. The effects of different combustion conditions resulting from differences in fuel composition, geometry, and ventilation have been investigated. The present state of knowledge regarding smoke production from building fires is briefly reviewed and placed into the nuclear winter framework. Plywood sheets were burned in a parallel plate configuration, a geometry in which fuel specimens create their own environment independent of the larger surroundings. Wood cribs were burned in fully and underventilated conditions. Asphalt roofing shingles were burned under conditions representing the burning of a roof with the impingement of an external flame. The conduct of the experiments is described where mass loss of fuel during burning, the rate of heat release by oxygen depletion calorimetry, and the effective heat of combustion were determined as a function of time. The mass of smoke and the particle size distribution in each experiment were determined by sampling the aerosol particulate in the exhaust duct which captured all the effluent from the burning material. Reproducibility of the combustion parameters measured during the experiments is good, and where possible, they compare favorably with values in the literature. The influence of the combustion conditions on soot loading and character is discussed. The implications of the measurements are discussed in the context of nuclear winter to relate the results of medium-scale fire experiments to characteristics of fires after nuclear blasts. The measurement of the smoke particulate and its characterization are described in an accompanying paper.  相似文献   
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