全文获取类型
收费全文 | 1598篇 |
免费 | 7篇 |
国内免费 | 3篇 |
专业分类
系统科学 | 10篇 |
丛书文集 | 1篇 |
教育与普及 | 2篇 |
理论与方法论 | 18篇 |
现状及发展 | 502篇 |
研究方法 | 239篇 |
综合类 | 772篇 |
自然研究 | 64篇 |
出版年
2018年 | 15篇 |
2017年 | 22篇 |
2016年 | 15篇 |
2015年 | 8篇 |
2014年 | 16篇 |
2013年 | 19篇 |
2012年 | 113篇 |
2011年 | 187篇 |
2010年 | 40篇 |
2009年 | 21篇 |
2008年 | 115篇 |
2007年 | 117篇 |
2006年 | 116篇 |
2005年 | 110篇 |
2004年 | 76篇 |
2003年 | 84篇 |
2002年 | 112篇 |
2001年 | 17篇 |
2000年 | 23篇 |
1999年 | 9篇 |
1996年 | 7篇 |
1994年 | 8篇 |
1988年 | 9篇 |
1986年 | 7篇 |
1985年 | 7篇 |
1984年 | 8篇 |
1980年 | 10篇 |
1979年 | 15篇 |
1978年 | 13篇 |
1977年 | 10篇 |
1976年 | 16篇 |
1975年 | 12篇 |
1974年 | 9篇 |
1973年 | 19篇 |
1972年 | 9篇 |
1971年 | 17篇 |
1970年 | 11篇 |
1969年 | 12篇 |
1968年 | 8篇 |
1967年 | 13篇 |
1966年 | 15篇 |
1965年 | 9篇 |
1962年 | 6篇 |
1960年 | 8篇 |
1958年 | 6篇 |
1957年 | 6篇 |
1956年 | 6篇 |
1955年 | 10篇 |
1954年 | 6篇 |
1946年 | 7篇 |
排序方式: 共有1608条查询结果,搜索用时 31 毫秒
71.
Macgregor S Montgomery GW Liu JZ Zhao ZZ Henders AK Stark M Schmid H Holland EA Duffy DL Zhang M Painter JN Nyholt DR Maskiell JA Jetann J Ferguson M Cust AE Jenkins MA Whiteman DC Olsson H Puig S Bianchi-Scarrà G Hansson J Demenais F Landi MT Dębniak T Mackie R Azizi E Bressac-de Paillerets B Goldstein AM Kanetsky PA Gruis NA Elder DE Newton-Bishop JA Bishop DT Iles MM Helsing P Amos CI Wei Q Wang LE Lee JE Qureshi AA Kefford RF Giles GG Armstrong BK Aitken JF Han J Hopper JL Trent JM Brown KM 《Nature genetics》2011,43(11):1114-1118
We performed a genome-wide association study of melanoma in a discovery cohort of 2,168 Australian individuals with melanoma and 4,387 control individuals. In this discovery phase, we confirm several previously characterized melanoma-associated loci at MC1R, ASIP and MTAP-CDKN2A. We selected variants at nine loci for replication in three independent case-control studies (Europe: 2,804 subjects with melanoma, 7,618 control subjects; United States 1: 1,804 subjects with melanoma, 1,026 control subjects; United States 2: 585 subjects with melanoma, 6,500 control subjects). The combined meta-analysis of all case-control studies identified a new susceptibility locus at 1q21.3 (rs7412746, P = 9.0 × 10(-11), OR in combined replication cohorts of 0.89 (95% CI 0.85-0.95)). We also show evidence suggesting that melanoma associates with 1q42.12 (rs3219090, P = 9.3 × 10(-8)). The associated variants at the 1q21.3 locus span a region with ten genes, and plausible candidate genes for melanoma susceptibility include ARNT and SETDB1. Variants at the 1q21.3 locus do not seem to be associated with human pigmentation or measures of nevus density. 相似文献
72.
A rare penetrant mutation in CFH confers high risk of age-related macular degeneration 总被引:1,自引:0,他引:1
73.
Dobbins SE Broderick P Melin B Feychting M Johansen C Andersson U Brännström T Schramm J Olver B Lloyd A Ma YP Hosking FJ Lönn S Ahlbom A Henriksson R Schoemaker MJ Hepworth SJ Hoffmann P Mühleisen TW Nöthen MM Moebus S Eisele L Kosteljanetz M Muir K Swerdlow A Simon M Houlston RS 《Nature genetics》2011,43(9):825-827
To identify susceptibility loci for meningioma, we conducted a genome-wide association study of 859 affected individuals (cases) and 704 controls with validation in two independent sample sets totaling 774 cases and 1,764 controls. We identified a new susceptibility locus for meningioma at 10p12.31 (MLLT10, rs11012732, odds ratio = 1.46, P(combined) = 1.88 × 10(-14)). This finding advances our understanding of the genetic basis of meningioma development. 相似文献
74.
Crossan GP van der Weyden L Rosado IV Langevin F Gaillard PH McIntyre RE;Sanger Mouse Genetics Project Gallagher F Kettunen MI Lewis DY Brindle K Arends MJ Adams DJ Patel KJ 《Nature genetics》2011,43(2):147-152
The evolutionarily conserved SLX4 protein, a key regulator of nucleases, is critical for DNA damage response. SLX4 nuclease complexes mediate repair during replication and can also resolve Holliday junctions formed during homologous recombination. Here we describe the phenotype of the Btbd12 knockout mouse, the mouse ortholog of SLX4, which recapitulates many key features of the human genetic illness Fanconi anemia. Btbd12-deficient animals are born at sub-Mendelian ratios, have greatly reduced fertility, are developmentally compromised and are prone to blood cytopenias. Btbd12(-/-) cells prematurely senesce, spontaneously accumulate damaged chromosomes and are particularly sensitive to DNA crosslinking agents. Genetic complementation reveals a crucial requirement for Btbd12 (also known as Slx4) to interact with the structure-specific endonuclease Xpf-Ercc1 to promote crosslink repair. The Btbd12 knockout mouse therefore establishes a disease model for Fanconi anemia and genetically links a regulator of nuclease incision complexes to the Fanconi anemia DNA crosslink repair pathway. 相似文献
75.
Khan ZU Martín-Montañez E Baxter MG 《Cellular and molecular life sciences : CMLS》2011,68(10):1737-1754
Visual perception and memory are the most important components of vision processing in the brain. It was thought that the
perceptual aspect of a visual stimulus occurs in visual cortical areas and that this serves as the substrate for the formation
of visual memory in a distinct part of the brain called the medial temporal lobe. However, current evidence indicates that
there is no functional separation of areas. Entire visual cortical pathways and connecting medial temporal lobe are important
for both perception and visual memory. Though some aspects of this view are debated, evidence from both sides will be explored
here. In this review, we will discuss the anatomical and functional architecture of the entire system and the implications
of these structures in visual perception and memory. 相似文献
76.
Jayantha Arnold Arvind Sangwaiya Vijay Manglam Frank Geoghegan Mark Thursz Mark Busbridge 《河南科技》2010,(3)
AIM: To examine body fluids such as ascitic fluid (AF),saliva,bile and pleural effusions for the presence of hepcidin using a novel radioimmunoassay (RIA).METHODS: Serum samples were collected from 25 healthy volunteers (mean age: 36 ± 11.9 years,11 males,14 females).In addition bile was obtained from 12 patients undergoing endoscopic retrograde cholangiopancreatography (mean age: 66.9 ± 16.7 years,M:F = 5:7).Saliva was collected from 17 healthy volunteers (mean age: 35 ± 9.9 years,M:F = 8:9).Pleural and AF... 相似文献
77.
78.
Gardner MJ Shallom SJ Carlton JM Salzberg SL Nene V Shoaibi A Ciecko A Lynn J Rizzo M Weaver B Jarrahi B Brenner M Parvizi B Tallon L Moazzez A Granger D Fujii C Hansen C Pederson J Feldblyum T Peterson J Suh B Angiuoli S Pertea M Allen J Selengut J White O Cummings LM Smith HO Adams MD Venter JC Carucci DJ Hoffman SL Fraser CM 《Nature》2002,419(6906):531-534
The mosquito-borne malaria parasite Plasmodium falciparum kills an estimated 0.7-2.7 million people every year, primarily children in sub-Saharan Africa. Without effective interventions, a variety of factors-including the spread of parasites resistant to antimalarial drugs and the increasing insecticide resistance of mosquitoes-may cause the number of malaria cases to double over the next two decades. To stimulate basic research and facilitate the development of new drugs and vaccines, the genome of Plasmodium falciparum clone 3D7 has been sequenced using a chromosome-by-chromosome shotgun strategy. We report here the nucleotide sequences of chromosomes 10, 11 and 14, and a re-analysis of the chromosome 2 sequence. These chromosomes represent about 35% of the 23-megabase P. falciparum genome. 相似文献
79.
80.