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161.
Geothermal energy potential is usually discussed in the context of conventional or engi-neered systems and at the scale of an individual reservoir. Whereas exploration for conventional reser-voirs has ...  相似文献   
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The past decade has seen great advances in unraveling the biological basis of hereditary ataxias. Molecular studies of spinocerebellar ataxias (SCA) have extended our understanding of dominant ataxias. Causative genes have been identified for a few autosomal recessive ataxias: Friedreich's ataxia, ataxia with vitamin E deficiency, ataxia telangiectasia, recessive spastic ataxia of Charlevoix-Saguenay and ataxia with oculomotor apraxia type 1 (refs. 6,7) and type 2 (ref. 8). Nonetheless, genes remain unidentified for most recessive ataxias. Additionally, pure cerebellar ataxias, which represent up to 20% of all ataxias, remain poorly studied with only two causative dominant genes being described: CACNA1A (ref. 9) and SPTBN2 (ref. 10). Here, we report a newly discovered form of recessive ataxia in a French-Canadian cohort and show that SYNE1 mutations are causative in all of our kindreds, making SYNE1 the first identified gene responsible for a recessively inherited pure cerebellar ataxia.  相似文献   
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In addition to delivering a haploid genome to the egg, sperm have additional critical functions, including egg activation, origination of the zygote centrosome and delivery of paternal factors. Despite this, existing knowledge of the molecular basis of sperm form and function is limited. We used whole-sperm mass spectrometry to identify 381 proteins of the Drosophila melanogaster sperm proteome (DmSP). This approach identified mitochondrial, metabolic and cytoskeletal proteins, in addition to several new functional categories. We also observed nonrandom genomic clustering of sperm genes and underrepresentation on the X chromosome. Identification of widespread functional constraint on the proteome indicates that sexual selection has had a limited role in the overall evolution of D. melanogaster sperm. The relevance of the DmSP to the study of mammalian sperm function and fertilization mechanisms is demonstrated by the identification of substantial homology between the DmSP and proteins of the mouse axoneme accessory structure.  相似文献   
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Genetic factors have been implicated in stroke risk, but few replicated associations have been reported. We conducted a genome-wide association study (GWAS) for ischemic stroke and its subtypes in 3,548 affected individuals and 5,972 controls, all of European ancestry. Replication of potential signals was performed in 5,859 affected individuals and 6,281 controls. We replicated previous associations for cardioembolic stroke near PITX2 and ZFHX3 and for large vessel stroke at a 9p21 locus. We identified a new association for large vessel stroke within HDAC9 (encoding histone deacetylase 9) on chromosome 7p21.1 (including further replication in an additional 735 affected individuals and 28,583 controls) (rs11984041; combined P = 1.87 × 10(-11); odds ratio (OR) = 1.42, 95% confidence interval (CI) = 1.28-1.57). All four loci exhibited evidence for heterogeneity of effect across the stroke subtypes, with some and possibly all affecting risk for only one subtype. This suggests distinct genetic architectures for different stroke subtypes.  相似文献   
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The structure of grassland communities can vary widely in response to heterogeneous habitat variables. In this study we document plant communities, soil types, and site characteristics for 12 Palouse prairie remnants in southeastern Washington and northern Idaho. We used general linear models to test the predictive value of 6 biophysical variables (slope, aspect, distance from edge, edge type, vegetation structure, and soil type) on 3 plant community metrics: species richness, Simpson’s diversity index, and the dominance of exotic species. From full models including all variables, we used Akaike’s information criterion (AIC) to select the best model for each metric. Aspect and vegetation structure were significant predictors of species richness ( R 2 = 0.08) and diversity ( R 2 = 0.09), while aspect, soil type, distance from edge, and edge type (type of adjacent matrix habitat) influenced the dominance of exotic species ( R 2 = 0.28). Additional soil sampling determined that the depth to a restrictive layer also had significant impacts on the dominance of exotic species ( R 2 = 0.31). This study confirms that biophysical characteristics influence Palouse prairie plant communities and may help set research and conservation priorities for isolated and uninventoried remnants.  相似文献   
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Sea anemone venoms have long been recognized as a rich source of peptides with interesting pharmacological and structural properties, but they still contain many uncharacterized bioactive compounds. Here we report the discovery, three-dimensional structure, activity, tissue localization, and putative function of a novel sea anemone peptide toxin that constitutes a new, sixth type of voltage-gated potassium channel (KV) toxin from sea anemones. Comprised of just 17 residues, κ-actitoxin-Ate1a (Ate1a) is the shortest sea anemone toxin reported to date, and it adopts a novel three-dimensional structure that we have named the Proline-Hinged Asymmetric β-hairpin (PHAB) fold. Mass spectrometry imaging and bioassays suggest that Ate1a serves a primarily predatory function by immobilising prey, and we show this is achieved through inhibition of Shaker-type KV channels. Ate1a is encoded as a multi-domain precursor protein that yields multiple identical mature peptides, which likely evolved by multiple domain duplication events in an actinioidean ancestor. Despite this ancient evolutionary history, the PHAB-encoding gene family exhibits remarkable sequence conservation in the mature peptide domains. We demonstrate that this conservation is likely due to intra-gene concerted evolution, which has to our knowledge not previously been reported for toxin genes. We propose that the concerted evolution of toxin domains provides a hitherto unrecognised way to circumvent the effects of the costly evolutionary arms race considered to drive toxin gene evolution by ensuring efficient secretion of ecologically important predatory toxins.  相似文献   
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The WTCCC study identified 49 SNPs putatively associated with rheumatoid arthritis at P = 1 x 10(-4) - 1 x 10(-5) (tier 3). Here we show that three of these SNPs, mapping to chromosome 10p15 (rs4750316), 12q13 (rs1678542) and 22q13 (rs3218253), are also associated (trend P = 4 x 10(-5), P = 4 x 10(-4) and P = 4 x 10(-4), respectively) in a validation study of 4,106 individuals with rheumatoid arthritis and an expanded reference group of 11,238 subjects, confirming them as true susceptibility loci in individuals of European ancestry.  相似文献   
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新的教育科技为许多大专校院带来更多元、更具弹性的教育劳务提供方式 .将学习的空间由教室局促的场景 ,扩展到超越时空限制的学习型态 ;由传统教师面对学生单向的传输 ,转换成为多面向、多感官的教学情境 ;学习的过程也由重视个人的理解、领悟 ,转变为强调协同学习 (collabo rativelearning)的相互酝酿与启发 ,本文由文献探讨了解教学活动设计各阶段目标任务、探讨教学方法于网路辅助教学应用模式 ,以及课程评量策略 ,并以逢甲大学图书馆协助校内教师进行网路辅助教学之经验为验证 ,依据教师教学历程三阶段 :课程开始前———课程需求分析阶段、课程进行中———学科馆员与教师之协同教学模式、课程结束———教学评量阶段 ,说明图书馆推动网路辅助教学在人力、资源上所投入支援服务以及其运作模式 ,以期能检讨过程并发现问题 ,作为未来发展出合适之教学支援服务 (facultysupport)模式之参考  相似文献   
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