全文获取类型
收费全文 | 900篇 |
免费 | 3篇 |
国内免费 | 3篇 |
专业分类
系统科学 | 7篇 |
丛书文集 | 1篇 |
教育与普及 | 2篇 |
理论与方法论 | 14篇 |
现状及发展 | 78篇 |
研究方法 | 182篇 |
综合类 | 559篇 |
自然研究 | 63篇 |
出版年
2021年 | 1篇 |
2020年 | 4篇 |
2018年 | 6篇 |
2017年 | 13篇 |
2016年 | 7篇 |
2015年 | 5篇 |
2014年 | 7篇 |
2013年 | 9篇 |
2012年 | 84篇 |
2011年 | 155篇 |
2010年 | 23篇 |
2009年 | 9篇 |
2008年 | 75篇 |
2007年 | 82篇 |
2006年 | 90篇 |
2005年 | 84篇 |
2004年 | 61篇 |
2003年 | 70篇 |
2002年 | 83篇 |
2001年 | 1篇 |
2000年 | 4篇 |
1999年 | 2篇 |
1997年 | 3篇 |
1996年 | 2篇 |
1994年 | 3篇 |
1993年 | 1篇 |
1992年 | 1篇 |
1988年 | 4篇 |
1987年 | 1篇 |
1986年 | 1篇 |
1983年 | 1篇 |
1982年 | 1篇 |
1981年 | 1篇 |
1978年 | 2篇 |
1977年 | 1篇 |
1976年 | 4篇 |
1975年 | 1篇 |
1974年 | 1篇 |
1973年 | 1篇 |
1970年 | 1篇 |
1965年 | 1篇 |
排序方式: 共有906条查询结果,搜索用时 15 毫秒
41.
42.
Don't judge species on their origins 总被引:1,自引:0,他引:1
43.
Péterfy M Ben-Zeev O Mao HZ Weissglas-Volkov D Aouizerat BE Pullinger CR Frost PH Kane JP Malloy MJ Reue K Pajukanta P Doolittle MH 《Nature genetics》2007,39(12):1483-1487
Hypertriglyceridemia is a hallmark of many disorders, including metabolic syndrome, diabetes, atherosclerosis and obesity. A well-known cause is the deficiency of lipoprotein lipase (LPL), a key enzyme in plasma triglyceride hydrolysis. Mice carrying the combined lipase deficiency (cld) mutation show severe hypertriglyceridemia owing to a decrease in the activity of LPL and a related enzyme, hepatic lipase (HL), caused by impaired maturation of nascent LPL and hepatic lipase polypeptides in the endoplasmic reticulum (ER). Here we identify the gene containing the cld mutation as Tmem112 and rename it Lmf1 (Lipase maturation factor 1). Lmf1 encodes a transmembrane protein with an evolutionarily conserved domain of unknown function that localizes to the ER. A human subject homozygous for a deleterious mutation in LMF1 also shows combined lipase deficiency with concomitant hypertriglyceridemia and associated disorders. Thus, through its profound effect on lipase activity, LMF1 emerges as an important candidate gene in hypertriglyceridemia. 相似文献
44.
Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants 总被引:2,自引:0,他引:2
Wellcome Trust Case Control Consortium;Australo-Anglo-American Spondylitis Consortium 《Nature genetics》2007,39(11):1329-1337
We have genotyped 14,436 nonsynonymous SNPs (nsSNPs) and 897 major histocompatibility complex (MHC) tag SNPs from 1,000 independent cases of ankylosing spondylitis (AS), autoimmune thyroid disease (AITD), multiple sclerosis (MS) and breast cancer (BC). Comparing these data against a common control dataset derived from 1,500 randomly selected healthy British individuals, we report initial association and independent replication in a North American sample of two new loci related to ankylosing spondylitis, ARTS1 and IL23R, and confirmation of the previously reported association of AITD with TSHR and FCRL3. These findings, enabled in part by increased statistical power resulting from the expansion of the control reference group to include individuals from the other disease groups, highlight notable new possibilities for autoimmune regulation and suggest that IL23R may be a common susceptibility factor for the major 'seronegative' diseases. 相似文献
45.
Maller JB Fagerness JA Reynolds RC Neale BM Daly MJ Seddon JM 《Nature genetics》2007,39(10):1200-1201
The association of variants in complement factors H and B with age-related macular degeneration has led to more intense genetic and functional analysis of the complement pathway. We identify a nonsynonymous coding change in complement factor 3 that is strongly associated with risk of age-related macular degeneration in a large case-control sample. 相似文献
46.
The predominantly marine genus Schizopera Sars, 1905 has only two significant inland water species-flocks, one in the ancient African Lake Tanganyika and the other in subterranean waters of Western Australia. Discovery of Schizopera abei sp. nov. from several interstitial locations in the vicinity of the ancient Lake Biwa has wider implications for the study of morphological homoplasies in the genus, as well as for the study of freshwater invasions in harpacticoid copepods. The new Schizopera species belongs to a small group of congeners with a two-segmented endopod of the fourth leg, which used to be recognised as a separate genus, Schizoperopsis Apostolov, 1982. Our reconstructed phylogenies based on the mtCOI partial sequences suggest that this character probably evolved convergently in at least some Schizopera, thus rendering the genus Schizoperopsis polyphyletic. However, almost all basal nodes in our cladograms are weakly supported, which shows limitations of a single-gene approach for reconstructing phylogenetic relationships. The new species is the first member of its genus from Japanese inland waters, and it has no close relatives among extent congeners anywhere in the world. We speculate that its ancestor may have invaded Lake Biwa, and subsequently its surrounding subterranean waters, from brackish areas around central Japan, presumably during a period of high sea water level through its major outflow river. This discovery may provide further support for the hypothesis about the role of ancient lakes as biodiversity pumps for subterranean habitats.http://zoobank.org/urn:lsid:zoobank.org:pub:1F71F7AD-B7C8-4AD3-BE44-5E1BEE4E2AA8 相似文献
47.
This paper examines the justification for the hypothesis of extended cognition (HEC). HEC claims that human cognitive processes can, and often do, extend outside our head to include objects in the environment. HEC has been justified by inference to the best explanation (IBE). Both advocates and critics of HEC claim that we can infer the truth value of HEC based on whether HEC makes a positive or negative explanatory contribution to cognitive science. I argue that IBE cannot play this epistemic role. A serious rival to HEC exists with a differing truth value, and this invalidates IBEs for both the truth and the falsity of HEC. Explanatory value to cognitive science is not a guide to the truth value of HEC. 相似文献
48.
Morelli G Song Y Mazzoni CJ Eppinger M Roumagnac P Wagner DM Feldkamp M Kusecek B Vogler AJ Li Y Cui Y Thomson NR Jombart T Leblois R Lichtner P Rahalison L Petersen JM Balloux F Keim P Wirth T Ravel J Yang R Carniel E Achtman M 《Nature genetics》2010,42(12):1140-1143
Plague is a pandemic human invasive disease caused by the bacterial agent Yersinia pestis. We here report a comparison of 17 whole genomes of Y. pestis isolates from global sources. We also screened a global collection of 286 Y. pestis isolates for 933 SNPs using Sequenom MassArray SNP typing. We conducted phylogenetic analyses on this sequence variation dataset, assigned isolates to populations based on maximum parsimony and, from these results, made inferences regarding historical transmission routes. Our phylogenetic analysis suggests that Y. pestis evolved in or near China and spread through multiple radiations to Europe, South America, Africa and Southeast Asia, leading to country-specific lineages that can be traced by lineage-specific SNPs. All 626 current isolates from the United States reflect one radiation, and 82 isolates from Madagascar represent a second radiation. Subsequent local microevolution of Y. pestis is marked by sequential, geographically specific SNPs. 相似文献
49.
PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans
Grall A Guaguère E Planchais S Grond S Bourrat E Hausser I Hitte C Le Gallo M Derbois C Kim GJ Lagoutte L Degorce-Rubiales F Radner FP Thomas A Küry S Bensignor E Fontaine J Pin D Zimmermann R Zechner R Lathrop M Galibert F André C Fischer J 《Nature genetics》2012,44(2):140-147
Ichthyoses comprise a heterogeneous group of genodermatoses characterized by abnormal desquamation over the whole body, for which the genetic causes of several human forms remain unknown. We used a spontaneous dog model in the golden retriever breed, which is affected by a lamellar ichthyosis resembling human autosomal recessive congenital ichthyoses (ARCI), to carry out a genome-wide association study. We identified a homozygous insertion-deletion (indel) mutation in PNPLA1 that leads to a premature stop codon in all affected golden retriever dogs. We subsequently found one missense and one nonsense mutation in the catalytic domain of human PNPLA1 in six individuals with ARCI from two families. Further experiments highlighted the importance of PNPLA1 in the formation of the epidermal lipid barrier. This study identifies a new gene involved in human ichthyoses and provides insights into the localization and function of this yet uncharacterized member of the PNPLA protein family. 相似文献
50.
Yang J Ferreira T Morris AP Medland SE;Genetic Investigation of ANthropometric Traits 《Nature genetics》2012,44(4):369-75, S1-3
We present an approximate conditional and joint association analysis that can use summary-level statistics from a meta-analysis of genome-wide association studies (GWAS) and estimated linkage disequilibrium (LD) from a reference sample with individual-level genotype data. Using this method, we analyzed meta-analysis summary data from the GIANT Consortium for height and body mass index (BMI), with the LD structure estimated from genotype data in two independent cohorts. We identified 36 loci with multiple associated variants for height (38 leading and 49 additional SNPs, 87 in total) via a genome-wide SNP selection procedure. The 49 new SNPs explain approximately 1.3% of variance, nearly doubling the heritability explained at the 36 loci. We did not find any locus showing multiple associated SNPs for BMI. The method we present is computationally fast and is also applicable to case-control data, which we demonstrate in an example from meta-analysis of type 2 diabetes by the DIAGRAM Consortium. 相似文献