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991.
Aberrant splicing of phenylalanine hydroxylase mRNA: the major cause for phenylketonuria in parts of southern Europe. 总被引:6,自引:0,他引:6
B Dworniczak C Aulehla-Scholz L Kalaydjieva K Bartholomé K Grudda J Horst 《Genomics》1991,11(2):242-246
We report a mutation within the phenylalanine hydroxylase (PAH) gene that causes aberrant splicing of the mRNA and that is in tight association with chromosomal haplotypes 6, 10, and 36. Because of the high frequency of these particular haplotypes in Bulgaria, Italy, and Turkey, it appears to be one of the more frequent defects in the PAH gene causing classical phenylketonuria in this part of Europe. The mutation is a G to A transition at position 546 in intron 10 of the PAH gene, 11 bp upstream from the intron 10/exon 11 boundary. It activates a cryptic splice site and results in an in-frame insertion of 9 nucleotides between exon 10 and exon 11 of the processed mRNA. Normal amounts of liver PAH protein are present in homozygous patients, but no catalytic activity can be detected. This loss of enzyme activity is probably caused by conformational changes resulting from the insertion of three additional amino acids (Gly-Leu-Gln) between the normal sequences encoded by exon 10 and exon 11. 相似文献
992.
S J Usala J B Menke T L Watson F E Wondisford B D Weintraub J Bérard W E Bradley S Ono O T Mueller B B Bercu 《Molecular endocrinology (Baltimore, Md.)》1991,5(3):327-335
Different point mutations have been identified in the T3-binding domain of the c-erbA beta thyroid hormone receptor gene that are associated with variant phenotypes of generalized thyroid hormone resistance (GTHR). In most cases of GTHR, heterozygotes are affected; a single mutant allele results in the inhibition of the function of normal thyroid hormone receptors. We report here a novel genetic abnormality, a 3-basepair (bp) deletion in the T3-binding domain of the beta-receptor in a kindred, S, with GTHR. One patient, S1, was the product of a consanguineous union of two heterozygotes and was homozygous for this defect. Heterozygotes from kindred S harbored a CAC deletion at nucleotides 1295-1297, which resulted in the deduced loss of amino acid residue threonine at codon 332, and they displayed elevated free T4 levels and inappropriately normal TSH levels characteristic of other kindreds with GTHR. However, patient S1, who had two mutant alleles, had markedly elevated TSH and free T4 levels and displayed profound abnormalities in brain development and linear growth. A fibroblast c-erbA beta cDNA extending from codon 175 to stop codon 457 was cloned from patient S1, sequenced, and used to create a full-length mutant cDNA. The kindred S mutant receptor was synthesized in vitro and did not bind T3. This mutant receptor did bind with similar avidity as the wild-type human beta-receptor to thyroid hormone response elements of the human TSH beta (-12 to 43 bp) and rat GH (-188 to -160 bp) genes. Kindred S showed the effect in man of heterozygous and homozygous expression of a dominant negative form of c-erbA beta. 相似文献
993.
Summary The influence of various storage solutions and temperature (4°C and 25°C) on viability ofStreptococcus salivarius subsp.thermophilus andLactobacillusdelbrueckii subsp.bulgaricus entrapped in κ-carrageenan-locust bean gum mixed gel beads was studied. The immobilized strains could be stored at 4°C in
all storage solutions studied for at least 14 and 11 days respectively before counts decreased to 105c.f.u./mL, which was considered to be the practical limit for their use as inoculum in a fermentation process. The most effective
storage solutions for preserving cell viability at 4°C were NaCl, glycerol and sorbitol solutions forS. thermophilus, and PO4 buffer and sorbitol solutions forL. bulgaricus. At 25°C,S. thermophilus could be stored for over 14 days in all solutions except glycerol, andL. bulgaricus for 4 days in 10% sorbitol. 相似文献
994.
Several aspects of plant-water relationships and canopy behaviour have been studied over several years in two experimental areas of Quercus ilex L. forests in the northeastern Iberian Peninsula. Water requirements, water status limits necessary for a positive carbon budget and the functional canopy behaviour in the face of abiotic stress were evaluated, in order to determine which factors influence the geographical range of these forests.The results showed that holm oak has a conservative water use, a low cuticular transpiration, a high capacity for osmotic adjustement and xerophytic characteristics in leaf morphology and canopy arrangement. More than 440 mm of annual rainfall are required for these forests to persist. Summer drought and winter cold are thus important abiotic factors limiting the distribution of Quercus ilex. In both cases, drought stress is involved. 相似文献
995.
Marie-Renée de Roubin Michael D. Cailas Shi-Hsiang Shen Denis Groleau 《Journal of industrial microbiology & biotechnology》1992,9(1):69-72
Summary A central composite design (CCD) was used to evaluate, for the purpose of future process optimization, the influence of pH, yeast extract and ammonium chloride concentrations on the proportion of periplasmic hepatitisB pre-S2 antigen in the recombinant yeastHansenula polymorpha. Each factor was tested at five levels, and a second order polynomial model for the proportion of periplasmic antigen was fitted to the treatment combinations. pH showed the greatest effect: the proportion of periplasmic antigen was greatly increased at the higher pH levels. At the higher pH levels used, the proportion of periplasmic antigen was enhanced by a high concentration of ammonium chloride. Additional experiments have confirmed both the validity of the selected model and the optimal conditions found. A significant correlation was found between the proportion of periplasmic antigen and the total yield of antigen. These results indicated that is should be possible to modulate the distribution of the pre-S2 antigen between the periplasm and the cytoplasm of the yeast. 相似文献
996.
H. Asmus R. M. Asmus T. C. Prins N. Dankers G. Francés B. Maaß K. Reise 《Helgoland Marine Research》1992,46(3):341-361
Material flux rates in an intertidal mussel bed were measured synchronously over two tidal cycles in June 1989 with Benthic
Ecosystem Tunnels and a double lane flume. The tunnels enclosed the near bottom water, whereas the flume canalized the total
water column. One tunnel was set up in a mussel bed and another one in an adjacent sand bottom as a control. The flume enclosed
a mussel lane and a sand lane. In the tunnel and in the flume the mussel bed revealed ammonium and phosphate discharge. At
the same time, phytoplankton, dominated byPhyaeocystis globosa, was taken up intensively. These flux rates showed the same tendency but they were higher in the flume than in the tunnel.
Different tendencies and flux rates for oxygen and particulate organic matter (POC, PN) were found in flume and tunnel. These
differences demonstrate the importance of water column processes regarding the material exchange of a mussel bed. Tunnels
enclose smaller bodies of water and are therefore expected to detect even small effects of the benthos on the passing water.
In flumes, benthic influence may be diluted over the entire water column but conditions are more natural. The use of flumes
is restricted to shallow waters while tunnels have the potential to be used at any depth. 相似文献
997.
The study of the solubility of unstructured proteins (αS1-, β-, and κ-casein) and well-structured globulin (β-lactoglobulin) in low water binary solvent systems demonstrated the crucial importance of solvent polarity and neutralization of protein polar functions on the final outcome of solubility experiments. The solubilities up to 38, 56, and 96% in CHCl3/CH3OH (1/1, v/v) acidified with HCl and up to 5, 10, and 25% in CHCl3/CH3OH (1/1, v/v) in the presence of triethylamine (TEA) were obtained for κ-, αS1-, and β-casein, respectively. The importance of protein charge neutralization was apparent when the solubilization was performed in basified CHCl3/CH3OH media, giving the optimal results when the studied proteins were brought before to their isoionic point. The maximum solubility of β-casein at its pI in 30–70% methanol in CHCl3 was reaching 50–60% with triethylamine (TEA) added. β-lactoglobulin could be solubilized up to 70% in CHCl3/CH3OH (7/3, v/v) acidified with HCl and up to 40% in CHCl3/CH3OH (3/7, v/v) in the presence of TEA. The observed yield of reductive alkylation of β-lactoglobulin was much higher (98%) when performed in studied solvent system than in aqueous conditions (75%). Apparently, steric hindrance of the well-folded β-barrel (in aqueous conditions) structure masks the portion of ε-NH2 groups. In the case of unstructured aqueous media β-casein, 90% alkylation yields were obained in organic and aqueous conditions. 相似文献
998.
The problem of looking for high efficient modern control strategies in fermentation technology is very urgent, nowdays. Particular attention should be paid to the processes in fed-batch mode. Both, optimal feedforward and feedback control approaches are suggested. A contribution is considered to have been made in the feedback control where continuous and discrete versions are treated as well. The control laws are carried out by a variation calculus problem and a polynomial pole placement synthesis solution, respectively. All the algorithms result in an optimal substrate feed rate profile. On the basis of recursive least squares identification of the model coefficients an adaptive discrete-time control strategy is proposed. Some satisfying simulation results are dealt with. 相似文献
999.
1000.
Quantification of adipose tissue by MRI: relationship with anthropometric variables. 总被引:5,自引:0,他引:5
This study had two objectives: 1) to establish magnetic resonance imaging (MRI) as a tool for measuring total and regional adipose tissue (AT) distribution in humans and 2) to assess the relationship between selected anthropometric variables and MRI-measured AT. Twenty-seven healthy men varying in age [40.8 +/- 14.5 (SD) yr], body mass index (28.5 +/- 4.8), and waist-to-hip ratio (WHR, 0.96 +/- 0.07) participated in the study. Total AT volume was determined using a linear interpolation of AT areas obtained on consecutive slices (n = 41) taken from head to toe (10-mm thickness, 50-mm centers). The mean change for repeated measures of total AT volume was 2.9% (range 0.9-4.3%). Large interindividual differences were observed for total AT volume (6.9-59.3 liters), subcutaneous AT (6.3-49.8 liters), and visceral AT (0.5-8.5 liters). Visceral AT represented 18.3% of the total AT. The single best predictor of total adiposity was waist circumference (R2 = 0.92). For visceral AT volume, WHR was the strongest anthropometric correlate (r = 0.85, P less than 0.01). When controlled for age and adiposity, however, WHR explained only 12% of the variation in absolute visceral AT and less than 1% of the variation in visceral-to-subcutaneous ratio. Age was a better predictor of visceral-to-subcutaneous ratio than level of adiposity or WHR. The results of this study demonstrate that MRI offers a reliable measure of regional and total AT distribution in humans and, thus, is of value as a research tool. 相似文献