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排序方式: 共有93条查询结果,搜索用时 9 毫秒
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A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms 总被引:69,自引:0,他引:69
Sachidanandam R Weissman D Schmidt SC Kakol JM Stein LD Marth G Sherry S Mullikin JC Mortimore BJ Willey DL Hunt SE Cole CG Coggill PC Rice CM Ning Z Rogers J Bentley DR Kwok PY Mardis ER Yeh RT Schultz B Cook L Davenport R Dante M Fulton L Hillier L Waterston RH McPherson JD Gilman B Schaffner S Van Etten WJ Reich D Higgins J Daly MJ Blumenstiel B Baldwin J Stange-Thomann N Zody MC Linton L Lander ES Altshuler D;International SNP Map Working Group 《Nature》2001,409(6822):928-933
We describe a map of 1.42 million single nucleotide polymorphisms (SNPs) distributed throughout the human genome, providing an average density on available sequence of one SNP every 1.9 kilobases. These SNPs were primarily discovered by two projects: The SNP Consortium and the analysis of clone overlaps by the International Human Genome Sequencing Consortium. The map integrates all publicly available SNPs with described genes and other genomic features. We estimate that 60,000 SNPs fall within exon (coding and untranslated regions), and 85% of exons are within 5 kb of the nearest SNP. Nucleotide diversity varies greatly across the genome, in a manner broadly consistent with a standard population genetic model of human history. This high-density SNP map provides a public resource for defining haplotype variation across the genome, and should help to identify biomedically important genes for diagnosis and therapy. 相似文献
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B. Blum V. Godel S. Gitter R. Stein 《Cellular and molecular life sciences : CMLS》1972,28(12):1440-1441
Zusammenfassung Durch Stimulation der visuellen corticalen Zone 17 und 18 des Pulvinarnukleus und des tractus opticus wurden Reiz-Potentiale von SC-Neuronen abgeleitet. Die präkonditionierte Stimulation des visuellen corticalen Zone 18 ergab ein konstantes Reiz-Muster. 相似文献
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Use of a multi-temporal grid method to analyze changes in glacier coverage in the Tibetan Plateau 总被引:3,自引:0,他引:3
This paper describes a multi-temporal grid method for quantifying changes in glacier coverage. A multi-temporal grid synthesizes spatial, attribute and process components of glacier information by sequentially combining spatial data from satellite images or maps. It enables us to identify glacier retreat and advance areas in individual grid cells for three or more periods of data sets. Discrepancies among the sequential data sets were detected graphically and numerically, including noise from geo-location error, misclassification, or different interpretation results in various pixel resolutions. Noise was detected and corrected to a large extent by visualization of the synthetic grid. The paper compares the results with that from a common method based on individual data sets, focusing on the Mt. Naimona'Nyi and Mt. Qomolangma regions at the northern slopes of the Himalayas. Results show that the identified noise (e.g. by 2.5 km2 in the Mt. Naimona'Nyi region) is much larger than measurement uncertainty calculated by sensor resolution and co-registration error (e.g. by 0.015 km2 in the Mt. Naimona'Nyi region). After noise removal, we notice that glacier recession clearly accelerates. The multi-temporal grid method results in a better quantification of glacier variation. It shows that glaciers in the Himalayas have both retreated and advanced during the last several decades, with retreat dominating and accelerating. Glaciers on the northern slope of Mt. Qomolangma in the middle Himalayas retreat more extensively and faster than those in the Mt. Naimona'Nyi region in the western Himalayas. 相似文献
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Decay of aftershock density with distance does not indicate triggering by dynamic stress 总被引:2,自引:0,他引:2
Resolving whether static or dynamic stress triggers most aftershocks and subsequent mainshocks is essential to understand earthquake interaction and to forecast seismic hazard. Felzer and Brodsky examined the distance distribution of earthquakes occurring in the first five minutes after 2?≤?M?3 and 3?≤?M?4 mainshocks and found that their magnitude M?≥?2 aftershocks showed a uniform power-law decay with slope -1.35 out to 50?km from the mainshocks. From this they argued that the distance decay could be explained only by dynamic triggering. Here we propose an alternative explanation for the decay, and subject their hypothesis to a series of tests, none of which it passes. At distances more than 300?m from the 2?≤?M?3 mainshocks, the seismicity decay 5?min before the mainshocks is indistinguishable from the decay five minutes afterwards, indicating that the mainshocks have no effect at distances outside their static triggering range. Omori temporal decay, the fundamental signature of aftershocks, is absent at distances exceeding 10?km from the mainshocks. Finally, the distance decay is found among aftershocks that occur before the arrival of the seismic wave front from the mainshock, which violates causality. We argue that Felzer and Brodsky implicitly assume that the first of two independent aftershocks along a fault rupture triggers the second, and that the first of two shocks in a creep- or intrusion-driven swarm triggers the second, when this need not be the case. 相似文献
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Zhou A Carrell RW Murphy MP Wei Z Yan Y Stanley PL Stein PE Broughton Pipkin F Read RJ 《Nature》2010,468(7320):108-111
Blood pressure is critically controlled by angiotensins, which are vasopressor peptides specifically released by the enzyme renin from the tail of angiotensinogen-a non-inhibitory member of the serpin family of protease inhibitors. Although angiotensinogen has long been regarded as a passive substrate, the crystal structures solved here to 2.1?? resolution show that the angiotensin cleavage site is inaccessibly buried in its amino-terminal tail. The conformational rearrangement that makes this site accessible for proteolysis is revealed in our 4.4?? structure of the complex of human angiotensinogen with renin. The co-ordinated changes involved are seen to be critically linked by a conserved but labile disulphide bridge. Here we show that the reduced unbridged form of angiotensinogen is present in the circulation in a near 40:60 ratio with the oxidized sulphydryl-bridged form, which preferentially interacts with receptor-bound renin. We propose that this redox-responsive transition of angiotensinogen to a form that will more effectively release angiotensin at a cellular level contributes to the modulation of blood pressure. Specifically, we demonstrate the oxidative switch of angiotensinogen to its more active sulphydryl-bridged form in the maternal circulation in pre-eclampsia-the hypertensive crisis of pregnancy that threatens the health and survival of both mother and child. 相似文献
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