全文获取类型
收费全文 | 41931篇 |
免费 | 87篇 |
国内免费 | 116篇 |
专业分类
系统科学 | 392篇 |
丛书文集 | 1022篇 |
教育与普及 | 107篇 |
理论与方法论 | 236篇 |
现状及发展 | 18788篇 |
研究方法 | 1598篇 |
综合类 | 19506篇 |
自然研究 | 485篇 |
出版年
2013年 | 213篇 |
2012年 | 527篇 |
2011年 | 1081篇 |
2010年 | 240篇 |
2008年 | 703篇 |
2007年 | 753篇 |
2006年 | 748篇 |
2005年 | 766篇 |
2004年 | 687篇 |
2003年 | 778篇 |
2002年 | 715篇 |
2001年 | 1286篇 |
2000年 | 1220篇 |
1999年 | 768篇 |
1992年 | 739篇 |
1991年 | 606篇 |
1990年 | 645篇 |
1989年 | 643篇 |
1988年 | 643篇 |
1987年 | 637篇 |
1986年 | 650篇 |
1985年 | 792篇 |
1984年 | 622篇 |
1983年 | 539篇 |
1982年 | 470篇 |
1981年 | 496篇 |
1980年 | 598篇 |
1979年 | 1302篇 |
1978年 | 1116篇 |
1977年 | 1114篇 |
1976年 | 825篇 |
1975年 | 872篇 |
1974年 | 1302篇 |
1973年 | 1052篇 |
1972年 | 1072篇 |
1971年 | 1326篇 |
1970年 | 1764篇 |
1969年 | 1385篇 |
1968年 | 1269篇 |
1967年 | 1329篇 |
1966年 | 1127篇 |
1965年 | 827篇 |
1964年 | 220篇 |
1959年 | 503篇 |
1958年 | 731篇 |
1957年 | 577篇 |
1956年 | 486篇 |
1955年 | 442篇 |
1954年 | 483篇 |
1948年 | 265篇 |
排序方式: 共有10000条查询结果,搜索用时 15 毫秒
821.
Schizophrenia is an etiologically heterogeneous psychiatric disease, which exists in familial and nonfamilial (sporadic) forms. Here, we examine the possibility that rare de novo copy number (CN) mutations with relatively high penetrance contribute to the genetic component of schizophrenia. We carried out a whole-genome scan and implemented a number of steps for finding and confirming CN mutations. Confirmed de novo mutations were significantly associated with schizophrenia (P = 0.00078) and were collectively approximately 8 times more frequent in sporadic (but not familial) cases with schizophrenia than in unaffected controls. In comparison, rare inherited CN mutations were only modestly enriched in sporadic cases. Our results suggest that rare de novo germline mutations contribute to schizophrenia vulnerability in sporadic cases and that rare genetic lesions at many different loci can account, at least in part, for the genetic heterogeneity of this disease. 相似文献
822.
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans 总被引:2,自引:0,他引:2
Kathiresan S Melander O Guiducci C Surti A Burtt NP Rieder MJ Cooper GM Roos C Voight BF Havulinna AS Wahlstrand B Hedner T Corella D Tai ES Ordovas JM Berglund G Vartiainen E Jousilahti P Hedblad B Taskinen MR Newton-Cheh C Salomaa V Peltonen L Groop L Altshuler DM Orho-Melander M 《Nature genetics》2008,40(2):189-197
823.
Kozyrev SV Abelson AK Wojcik J Zaghlool A Linga Reddy MV Sanchez E Gunnarsson I Svenungsson E Sturfelt G Jönsen A Truedsson L Pons-Estel BA Witte T D'Alfonso S Barizzone N Barrizzone N Danieli MG Gutierrez C Suarez A Junker P Laustrup H González-Escribano MF Martin J Abderrahim H Alarcón-Riquelme ME 《Nature genetics》2008,40(2):211-216
824.
825.
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes 总被引:1,自引:0,他引:1
Zeggini E Scott LJ Saxena R Voight BF Marchini JL Hu T de Bakker PI Abecasis GR Almgren P Andersen G Ardlie K Boström KB Bergman RN Bonnycastle LL Borch-Johnsen K Burtt NP Chen H Chines PS Daly MJ Deodhar P Ding CJ Doney AS Duren WL Elliott KS Erdos MR Frayling TM Freathy RM Gianniny L Grallert H Grarup N Groves CJ Guiducci C Hansen T Herder C Hitman GA Hughes TE Isomaa B Jackson AU Jørgensen T Kong A Kubalanza K Kuruvilla FG Kuusisto J Langenberg C Lango H Lauritzen T Li Y Lindgren CM 《Nature genetics》2008,40(5):638-645
Genome-wide association (GWA) studies have identified multiple loci at which common variants modestly but reproducibly influence risk of type 2 diabetes (T2D). Established associations to common and rare variants explain only a small proportion of the heritability of T2D. As previously published analyses had limited power to identify variants with modest effects, we carried out meta-analysis of three T2D GWA scans comprising 10,128 individuals of European descent and approximately 2.2 million SNPs (directly genotyped and imputed), followed by replication testing in an independent sample with an effective sample size of up to 53,975. We detected at least six previously unknown loci with robust evidence for association, including the JAZF1 (P = 5.0 x 10(-14)), CDC123-CAMK1D (P = 1.2 x 10(-10)), TSPAN8-LGR5 (P = 1.1 x 10(-9)), THADA (P = 1.1 x 10(-9)), ADAMTS9 (P = 1.2 x 10(-8)) and NOTCH2 (P = 4.1 x 10(-8)) gene regions. Our results illustrate the value of large discovery and follow-up samples for gaining further insights into the inherited basis of T2D. 相似文献
826.
van Es MA van Vught PW Blauw HM Franke L Saris CG Van den Bosch L de Jong SW de Jong V Baas F van't Slot R Lemmens R Schelhaas HJ Birve A Sleegers K Van Broeckhoven C Schymick JC Traynor BJ Wokke JH Wijmenga C Robberecht W Andersen PM Veldink JH Ophoff RA van den Berg LH 《Nature genetics》2008,40(1):29-31
We identified a SNP in the DPP6 gene that is consistently strongly associated with susceptibility to amyotrophic lateral sclerosis (ALS) in different populations of European ancestry, with an overall P value of 5.04 x 10(-8) in 1,767 cases and 1,916 healthy controls and with an odds ratio of 1.30 (95% confidence interval (CI) of 1.18-1.43). Our finding is the first report of a genome-wide significant association with sporadic ALS and may be a target for future functional studies. 相似文献
827.
828.
Pravenec M Churchill PC Churchill MC Viklicky O Kazdova L Aitman TJ Petretto E Hubner N Wallace CA Zimdahl H Zidek V Landa V Dunbar J Bidani A Griffin K Qi N Maxova M Kren V Mlejnek P Wang J Kurtz TW 《Nature genetics》2008,40(8):952-954
To identify renally expressed genes that influence risk for hypertension, we integrated expression quantitative trait locus (QTL) analysis of the kidney with genome-wide correlation analysis of renal expression profiles and blood pressure in recombinant inbred strains derived from the spontaneously hypertensive rat (SHR). This strategy, together with renal transplantation studies in SHR progenitor, transgenic and congenic strains, identified deficient renal expression of Cd36 encoding fatty acid translocase as a genetically determined risk factor for spontaneous hypertension. 相似文献
829.
Specific protein-protein interactions are essential for cellular functions. Experimentally determined three-dimensional structures
of protein-protein complexes offer the possibility to characterize binding interfaces in terms of size, shape and packing
density. Comparison with crystal-packing interfaces representing nonspecific protein-protein contacts gives insight into how
specific binding differs from nonspecific low-affinity binding. An overview is given on empirical structural rules for specific
protein-protein recognition derived from known complex structures. Although single parameters such as interface size, shape
or surface complementary show clear trends for different interface types, each parameter alone is insufficient to fully distinguish
between specific versus crystal-packing contacts. A combination of interface parameters is, however, well suited to characterize a specific interface.
This knowledge provides us with the essential ingredients that make up a specific protein recognition site. It is also of
great value for the prediction of protein binding sites and for the evaluation of predicted complex structures.
Received 1 October 2007; received after revision 9 November 2007; accepted 9 November 2007 相似文献
830.
Lubelski J Rink R Khusainov R Moll GN Kuipers OP 《Cellular and molecular life sciences : CMLS》2008,65(3):455-476
This review discusses the state-of-the-art in molecular research on the most prominent and widely applied lantibiotic, i.e., nisin. The developments in understanding its complex biosynthesis and mode of action are highlighted. Moreover, novel applications
arising from engineering either nisin itself, or from the construction of totally novel dehydrated and/or lanthionine-containing
peptides with desired bioactivities are described. Several challenges still exist in understanding the immunity system and
the unique multiple reactions occurring on a single substrate molecule, carried out by the dehydratase NisB and the cyclization
enzyme NisC. The recent elucidation of the 3-D structure of NisC forms the exciting beginning of further 3-D-structure determinations
of the other biosynthetic enzymes, transporters and immunity proteins. Advances in achieving in vitro activities of lanthionine-forming enzymes will greatly enhance our understanding of the molecular characteristics of the
biosynthesis process, opening up new avenues for developing unique and novel biocatalytic processes.
Received 9 April 2007; received after revision 31 August 2007; accepted 28 September 2007 相似文献