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571.
Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere 总被引:12,自引:0,他引:12
Lemmers RJ de Kievit P Sandkuijl L Padberg GW van Ommen GJ Frants RR van der Maarel SM 《Nature genetics》2002,32(2):235-236
Contractions in the polymorphic D4Z4 repeat array of subtelomere 4qter cause autosomal dominant facioscapulohumeral muscular dystrophy in humans. A polymorphic segment of 10 kb directly distal to D4Z4 exists in two allelic forms, 4qA and 4qB. Although both alleles are equally common in the general population, we now report that FSHD is associated solely with the 4qA allele. 相似文献
572.
van den Elzen R Guillén J Ruiz-del-Valle V Allende LM Lowy E Zamora J Arnaiz-Villena A 《Cellular and molecular life sciences : CMLS》2001,58(14):2117-2128
South American siskin radiation was studied by both mitochondrial cytochrome b (mt cyt b) DNA sequencing and homologous phenotypic
characters; the latter were coded separately according to sex. Mixed phenetic and molecular (total evidence) dendrograms were
constructed and the corresponding analyses suggest that speciation started in the South American siskin group with a north
to south separation (Carduelis notata/C. barbata) along the Andean spine. A second split may have taken place around the Peruvian Andean mountains, corresponding to the present
distribution pattern of C. olivacea. The most recent speciation events seem to have occurred in three sister species pairs: (i) C. xanthogastra/C. atrata, (ii) C. magellanica/C. yarrellii, (iii) C. cucullata/C. crassirostris. Accumulation of consistent characters in both morphological and molecular data at the basal nodes of the dendrograms indicate
that speciation events occurred within a short period of time. Our data also suggest that speciation probably occurred by
sexual selection through female mating choice in this radiation. Additionally, studies of variable amino acid residues in
the mt cyt b molecule show that the three variable amino acids found are placed in the mitochondrial transmembrane region,
which is also part of the hypervariable region in mammals. Each of the three amino acid changes occur in each of the three
postulated evolutionary groups.
Received 11 September 2001; received after revision 12 October 2001; accepted 15 October 2001 相似文献
573.
574.
Cleary MA van Raamsdonk CD Levorse J Zheng B Bradley A Tilghman SM 《Nature genetics》2001,29(1):78-82
Genomic imprinting is an epigenetic process in which the activity of a gene is determined by its parent of origin. Mechanisms governing genomic imprinting are just beginning to be understood. However, the tendency of imprinted genes to exist in chromosomal clusters suggests a sharing of regulatory elements. To better understand imprinted gene clustering, we disrupted a cluster of imprinted genes on mouse distal chromosome 7 using the Cre/loxP recombination system. In mice carrying a site-specific translocation separating Cdkn1c and Kcnq1, imprinting of the genes retained on chromosome 7, including Kcnq1, Kcnq1ot1, Ascl2, H19 and Igf2, is unaffected, demonstrating that these genes are not regulated by elements near or telomeric to Cdkn1c. In contrast, expression and imprinting of the translocated Cdkn1c, Slc22a1l and Tssc3 on chromosome 11 are affected, consistent with the hypothesis that elements regulating both expression and imprinting of these genes lie within or proximal to Kcnq1. These data support the proposal that chromosomal abnormalities, including translocations, within KCNQ1 that are associated with the human disease Beckwith-Wiedemann syndrome (BWS) may disrupt CDKN1C expression. These results underscore the importance of gene clustering for the proper regulation of imprinted genes. 相似文献
575.
576.
High critical currents in iron-clad superconducting MgB2 wires 总被引:17,自引:0,他引:17
Technically useful bulk superconductors must have high transport critical current densities, Jc, at operating temperatures. They also require a normal metal cladding to provide parallel electrical conduction, thermal stabilization, and mechanical protection of the generally brittle superconductor cores. The recent discovery of superconductivity at 39 K in magnesium diboride (MgB2) presents a new possibility for significant bulk applications, but many critical issues relevant for practical wires remain unresolved. In particular, MgB2 is mechanically hard and brittle and therefore not amenable to drawing into the desired fine-wire geometry. Even the synthesis of moderately dense, bulk MgB2 attaining 39 K superconductivity is a challenge because of the volatility and reactivity of magnesium. Here we report the successful fabrication of dense, metal-clad superconducting MgB2 wires, and demonstrate a transport Jc in excess of 85,000 A cm-2 at 4.2 K. Our iron-clad fabrication technique takes place at ambient pressure, yet produces dense MgB2 with little loss of stoichiometry. While searching for a suitable cladding material, we found that other materials dramatically reduced the critical current, showing that although MgB2 itself does not show the 'weak-link' effect characteristic of the high-Tc superconductors, contamination does result in weak-link-like behaviour. 相似文献
577.
The regulation of trehalose metabolism in insects 总被引:8,自引:0,他引:8
A. Becker P. Schlöder J. E. Steele G. Wegener 《Cellular and molecular life sciences : CMLS》1996,52(5):433-439
Trehalose is a non-reducing disaccharide comprising two glucose molecules. It is present in high concentration as the main haemolymph (blood) sugar in insects. The synthesis of trehalose in the fat body (an organ analogous in function to a combination of liver and adipose tissue in vertebrates) is stimulated by neuropeptides (hypertrehalosaemic hormones), released from the corpora cardiaca, a neurohaemal organ associated with the brain. The peptides cause a decrease in the content of fructose 2,6-bisphosphate in fat body cells. Fructose 2,6-bisphosphate, acting synergistically with AMP, is a potent activator of the glycolytic enzyme 6-phosphofructokinase-1 and a strong inhibitor of the gluconeogenic enzyme fructose 1,6-bisphosphatase. This indicates that fructose 2,6-bisphosphate is a key metabolic signal in the regulation of trehalose synthesis in insects. Trehalose is hydrolysed by trehalase (E.C. 3.2.1.28). The activity of this enzyme is regulated in flight muscle, but the mechanism by which this is achieved is unknown. Trehalase from locust, flight muscle is a glycoprotein bound to membranes of the microsomal fraction. The enzyme can be activated by detergents in vitro and by short flight intervals in vivo, which indicates that changes in the membrane environment modulate trehalase activity under physiological conditions. 相似文献
578.
Structure of the pancreatic lipase-procolipase complex. 总被引:11,自引:0,他引:11
Interfacial adsorption of pancreatic lipase is strongly dependent on the physical chemical properties of the lipid surface. These properties are affected by amphiphiles such as phospholipids and bile salts. In the presence of such amphiphiles, lipase binding to the interface requires a protein cofactor, colipase. We obtained crystals of the pancreatic lipase-procolipase complex and solved the structure at 3.04 A resolution. Here we describe the structure of procolipase, which essentially consists of three 'fingers' and is topologically comparable to snake toxins. The tips of the fingers contain most of the hydrophobic amino acids and presumably form the interfacial binding site. Lipase binding occurs at the opposite side to this site and involves polar interactions. Determination of the three-dimensional structure of pancreatic lipase has revealed the presence of two domains: an amino-terminal domain, at residues 1-336 containing the active site and a carboxy-terminal domain at residues 337-449 (ref. 6). Procolipase binds exclusively to the C-terminal domain of lipase. No conformational change in the lipase molecule is induced by the binding of procolipase. 相似文献
579.
Photon emission from mammalian cells has been subject of study for many years. Growing research activity is directed on the photon emission within the field of tumor biology. These studies, applying high-sensitivity photon counting methods, have paid attention to several aspects, including photon emission from serum of tumor-bearing animals, photon emission of tumors and of isolated tumor cells. In addition, research activity is increased with respect to the photon emission by white light from cultured tumor cells. In this review we report on the different aspects of spontaneous and induced photon emission of tumor cells as compared to normal cells. Throughout these studies the question of a functional biological role of this spontaneous and light-induced photon emission has been raised and some different points of view will be discussed. 相似文献
580.
西秦岭黄土的形成时代及与物源区关系探讨 总被引:5,自引:0,他引:5
磁性地层学研究表明西秦岭黄土的形年代为约为0.8Ma,其物质可能主要来自邻近的青藏高原,指示青高原此时大气环流和地表环境可能产生急剧的变化。 相似文献