全文获取类型
收费全文 | 227篇 |
免费 | 2篇 |
专业分类
系统科学 | 1篇 |
教育与普及 | 3篇 |
理论与方法论 | 2篇 |
现状及发展 | 48篇 |
研究方法 | 54篇 |
综合类 | 102篇 |
自然研究 | 19篇 |
出版年
2019年 | 1篇 |
2018年 | 1篇 |
2017年 | 2篇 |
2015年 | 3篇 |
2014年 | 1篇 |
2013年 | 4篇 |
2012年 | 18篇 |
2011年 | 40篇 |
2010年 | 6篇 |
2009年 | 1篇 |
2008年 | 11篇 |
2007年 | 23篇 |
2006年 | 17篇 |
2005年 | 22篇 |
2004年 | 10篇 |
2003年 | 11篇 |
2002年 | 18篇 |
2000年 | 1篇 |
1999年 | 5篇 |
1998年 | 1篇 |
1982年 | 2篇 |
1981年 | 2篇 |
1980年 | 2篇 |
1979年 | 1篇 |
1978年 | 1篇 |
1977年 | 3篇 |
1976年 | 1篇 |
1975年 | 2篇 |
1973年 | 2篇 |
1972年 | 3篇 |
1971年 | 1篇 |
1970年 | 2篇 |
1969年 | 2篇 |
1968年 | 3篇 |
1967年 | 3篇 |
1965年 | 1篇 |
1963年 | 1篇 |
1959年 | 1篇 |
排序方式: 共有229条查询结果,搜索用时 15 毫秒
181.
Adam?SanMiguel Elizabeth?A.?GriceEmail author 《Cellular and molecular life sciences : CMLS》2015,72(8):1499-1515
The skin is colonized by an assemblage of microorganisms which, for the most part, peacefully coexist with their hosts. In some cases, these communities also provide vital functions to cutaneous health through the modulation of host factors. Recent studies have illuminated the role of anatomical skin site, gender, age, and the immune system in shaping the cutaneous ecosystem. Alterations to microbial communities have also been associated with, and likely contribute to, a number of cutaneous disorders. This review focuses on the host factors that shape and maintain skin microbial communities, and the reciprocal role of microbes in modulating skin immunity. A greater understanding of these interactions is critical to elucidating the forces that shape cutaneous populations and their contributions to skin homeostasis. This knowledge can also inform the tendency of perturbations to predispose and/or bring about certain skin disorders. 相似文献
182.
Rivière JB van Bon BW Hoischen A Kholmanskikh SS O'Roak BJ Gilissen C Gijsen S Sullivan CT Christian SL Abdul-Rahman OA Atkin JF Chassaing N Drouin-Garraud V Fry AE Fryns JP Gripp KW Kempers M Kleefstra T Mancini GM Nowaczyk MJ van Ravenswaaij-Arts CM Roscioli T Marble M Rosenfeld JA Siu VM de Vries BB Shendure J Verloes A Veltman JA Brunner HG Ross ME Pilz DT Dobyns WB 《Nature genetics》2012,44(4):440-4, S1-2
Brain malformations are individually rare but collectively common causes of developmental disabilities. Many forms of malformation occur sporadically and are associated with reduced reproductive fitness, pointing to a causative role for de novo mutations. Here, we report a study of Baraitser-Winter syndrome, a well-defined disorder characterized by distinct craniofacial features, ocular colobomata and neuronal migration defect. Using whole-exome sequencing of three proband-parent trios, we identified de novo missense changes in the cytoplasmic actin-encoding genes ACTB and ACTG1 in one and two probands, respectively. Sequencing of both genes in 15 additional affected individuals identified disease-causing mutations in all probands, including two recurrent de novo alterations (ACTB, encoding p.Arg196His, and ACTG1, encoding p.Ser155Phe). Our results confirm that trio-based exome sequencing is a powerful approach to discover genes causing sporadic developmental disorders, emphasize the overlapping roles of cytoplasmic actin proteins in development and suggest that Baraitser-Winter syndrome is the predominant phenotype associated with mutation of these two genes. 相似文献
183.
Turnbull C Perdeaux ER Pernet D Naranjo A Renwick A Seal S Munoz-Xicola RM Hanks S Slade I Zachariou A Warren-Perry M Ruark E Gerrard M Hale J Hewitt M Kohler J Lane S Levitt G Madi M Morland B Neefjes V Nicholdson J Picton S Pizer B Ronghe M Stevens M Traunecker H Stiller CA Pritchard-Jones K Dome J Grundy P Rahman N 《Nature genetics》2012,44(6):681-684
Wilms tumor is the most common renal malignancy of childhood. To identify common variants that confer susceptibility to Wilms tumor, we conducted a genome-wide association study in 757 individuals with Wilms tumor (cases) and 1,879 controls. We evaluated ten SNPs in regions significantly associated at P < 5 × 10(-5) in two independent replication series from the UK (769 cases and 2,814 controls) and the United States (719 cases and 1,037 controls). We identified clear significant associations at 2p24 (rs3755132, P = 1.03 × 10(-14); rs807624, P = 1.32 × 10(-14)) and 11q14 (rs790356, P = 4.25 × 10(-15)). Both regions contain genes that are plausibly related to Wilms tumorigenesis. We also identified candidate association signals at 5q14, 22q12 and Xp22. 相似文献
184.
Beales PL Bland E Tobin JL Bacchelli C Tuysuz B Hill J Rix S Pearson CG Kai M Hartley J Johnson C Irving M Elcioglu N Winey M Tada M Scambler PJ 《Nature genetics》2007,39(6):727-729
Jeune asphyxiating thoracic dystrophy, an autosomal recessive chondrodysplasia, often leads to death in infancy because of a severely constricted thoracic cage and respiratory insufficiency; retinal degeneration, cystic renal disease and polydactyly may be complicating features. We show that IFT80 mutations underlie a subset of Jeune asphyxiating thoracic dystrophy cases, establishing the first association of a defective intraflagellar transport (IFT) protein with human disease. Knockdown of ift80 in zebrafish resulted in cystic kidneys, and knockdown in Tetrahymena thermophila produced shortened or absent cilia. 相似文献
185.
Ballif BC Hornor SA Jenkins E Madan-Khetarpal S Surti U Jackson KE Asamoah A Brock PL Gowans GC Conway RL Graham JM Medne L Zackai EH Shaikh TH Geoghegan J Selzer RR Eis PS Bejjani BA Shaffer LG 《Nature genetics》2007,39(9):1071-1073
We have identified a recurrent de novo pericentromeric deletion in 16p11.2-p12.2 in four individuals with developmental disabilities by microarray-based comparative genomic hybridization analysis. The identification of common clinical features in these four individuals along with the characterization of complex segmental duplications flanking the deletion regions suggests that nonallelic homologous recombination mediated these rearrangements and that deletions in 16p11.2-p12.2 constitute a previously undescribed syndrome. 相似文献
186.
187.
The Office for National Statistics (ONS) is planning a major Census field test in 2007. It will form part of the planning and testing programme leading to up the next Census of Population for England and Wales in 2011, which will also include a Rehearsal in 2009. The 2007 Test will be a large-scale test in five local authority (LA) areas selected to reflect a range of field conditions, covering some 100,000 households in total. Within England the Test will cover parts of Bath and North East Somerset, Camden, Liverpool and Stoke-on-Trent. In Wales the Test will take place in Carmarthenshire. The selected LAs have been chosen to provide a varied cross-section of the population and types of housing that would be covered in a full census. This article sets out the main aims for the Test and describes the design and location of the sampled areas and the basis for their selection. It goes on to detail the ways (previously reported in Population Trend 1251) in which the ONS Census team and the LAs involved are working in partnership in planning the census enumeration with the long-term view of improving overall census coverage and user confidence in the results. The article notes that decisions on the topics to be covered in the 2007 Test have only recently been decided, and concludes with an overview of the qustions to be included in the 2007 Test questionnaire. 相似文献
188.
The role of microRNA-1 and microRNA-133 in skeletal muscle proliferation and differentiation 总被引:57,自引:0,他引:57
Chen JF Mandel EM Thomson JM Wu Q Callis TE Hammond SM Conlon FL Wang DZ 《Nature genetics》2006,38(2):228-233
189.
Kellogg EA 《Nature genetics》2006,38(8):865-866
190.
Dinsdale EA Edwards RA Hall D Angly F Breitbart M Brulc JM Furlan M Desnues C Haynes M Li L McDaniel L Moran MA Nelson KE Nilsson C Olson R Paul J Brito BR Ruan Y Swan BK Stevens R Valentine DL Thurber RV Wegley L White BA Rohwer F 《Nature》2008,452(7187):629-632
Microbial activities shape the biogeochemistry of the planet and macroorganism health. Determining the metabolic processes performed by microbes is important both for understanding and for manipulating ecosystems (for example, disruption of key processes that lead to disease, conservation of environmental services, and so on). Describing microbial function is hampered by the inability to culture most microbes and by high levels of genomic plasticity. Metagenomic approaches analyse microbial communities to determine the metabolic processes that are important for growth and survival in any given environment. Here we conduct a metagenomic comparison of almost 15 million sequences from 45 distinct microbiomes and, for the first time, 42 distinct viromes and show that there are strongly discriminatory metabolic profiles across environments. Most of the functional diversity was maintained in all of the communities, but the relative occurrence of metabolisms varied, and the differences between metagenomes predicted the biogeochemical conditions of each environment. The magnitude of the microbial metabolic capabilities encoded by the viromes was extensive, suggesting that they serve as a repository for storing and sharing genes among their microbial hosts and influence global evolutionary and metabolic processes. 相似文献