全文获取类型
收费全文 | 333篇 |
免费 | 2篇 |
国内免费 | 2篇 |
专业分类
系统科学 | 19篇 |
教育与普及 | 4篇 |
理论与方法论 | 5篇 |
现状及发展 | 30篇 |
研究方法 | 52篇 |
综合类 | 203篇 |
自然研究 | 24篇 |
出版年
2022年 | 1篇 |
2018年 | 1篇 |
2017年 | 2篇 |
2016年 | 1篇 |
2015年 | 1篇 |
2014年 | 2篇 |
2013年 | 5篇 |
2012年 | 39篇 |
2011年 | 68篇 |
2010年 | 9篇 |
2009年 | 6篇 |
2008年 | 20篇 |
2007年 | 27篇 |
2006年 | 22篇 |
2005年 | 19篇 |
2004年 | 20篇 |
2003年 | 27篇 |
2002年 | 28篇 |
2001年 | 6篇 |
2000年 | 7篇 |
1999年 | 4篇 |
1998年 | 1篇 |
1997年 | 2篇 |
1996年 | 3篇 |
1995年 | 1篇 |
1990年 | 1篇 |
1987年 | 1篇 |
1986年 | 2篇 |
1985年 | 1篇 |
1982年 | 1篇 |
1978年 | 2篇 |
1977年 | 3篇 |
1976年 | 1篇 |
1973年 | 2篇 |
1965年 | 1篇 |
排序方式: 共有337条查询结果,搜索用时 15 毫秒
271.
Vithana EN Morgan P Sundaresan P Ebenezer ND Tan DT Mohamed MD Anand S Khine KO Venkataraman D Yong VH Salto-Tellez M Venkatraman A Guo K Hemadevi B Srinivasan M Prajna V Khine M Casey JR Inglehearn CF Aung T 《Nature genetics》2006,38(7):755-757
Congenital hereditary endothelial dystrophy (CHED) is a heritable, bilateral corneal dystrophy characterized by corneal opacification and nystagmus. We describe seven different mutations in the SLC4A11 gene in ten families with autosomal recessive CHED. Mutations in SLC4A11, which encodes a membrane-bound sodium-borate cotransporter, cause loss of function of the protein either by blocking its membrane targeting or nonsense-mediated decay. 相似文献
272.
Tarpey P Thomas S Sarvananthan N Mallya U Lisgo S Talbot CJ Roberts EO Awan M Surendran M McLean RJ Reinecke RD Langmann A Lindner S Koch M Jain S Woodruff G Gale RP Bastawrous A Degg C Droutsas K Asproudis I Zubcov AA Pieh C Veal CD Machado RD Backhouse OC Baumber L Constantinescu CS Brodsky MC Hunter DG Hertle RW Read RJ Edkins S O'Meara S Parker A Stevens C Teague J Wooster R Futreal PA Trembath RC Stratton MR Raymond FL Gottlob I 《Nature genetics》2006,38(11):1242-1244
Idiopathic congenital nystagmus is characterized by involuntary, periodic, predominantly horizontal oscillations of both eyes. We identified 22 mutations in FRMD7 in 26 families with X-linked idiopathic congenital nystagmus. Screening of 42 singleton cases of idiopathic congenital nystagmus (28 male, 14 females) yielded three mutations (7%). We found restricted expression of FRMD7 in human embryonic brain and developing neural retina, suggesting a specific role in the control of eye movement and gaze stability. 相似文献
273.
Shaw C 《Population trends》2007,(128):8-23
This article considers the accuracy of the official national population projections made for the UK over the last fifty years The findings take account of the revision to population estimates following the 2001 Census and are largely similar to the findings of a previous review carried out after the 1991 Census. The total population has been projected reasonably accurately but this is largely a chance result of compensating errors in the assumptions of fertility, mortality and net migration. The largest differences between projected and actual populations are for the very young and the very old, while projections of the working age population have been comparatively accurate. Fertility and mortality errors have reduced in more recent projections, while migration errors have grown. However, this may simply reflect the volatility or stability of the respective time-series at the time the projections are made. Changes in estimates of the past and current size of the population (highlighted by the revisions made to population estimates following the 2001 Census) are also shown to play a part in explaining projection error. 相似文献
274.
275.
Plenge RM Cotsapas C Davies L Price AL de Bakker PI Maller J Pe'er I Burtt NP Blumenstiel B DeFelice M Parkin M Barry R Winslow W Healy C Graham RR Neale BM Izmailova E Roubenoff R Parker AN Glass R Karlson EW Maher N Hafler DA Lee DM Seldin MF Remmers EF Lee AT Padyukov L Alfredsson L Coblyn J Weinblatt ME Gabriel SB Purcell S Klareskog L Gregersen PK Shadick NA Daly MJ Altshuler D 《Nature genetics》2007,39(12):1477-1482
To identify susceptibility alleles associated with rheumatoid arthritis, we genotyped 397 individuals with rheumatoid arthritis for 116,204 SNPs and carried out an association analysis in comparison to publicly available genotype data for 1,211 related individuals from the Framingham Heart Study. After evaluating and adjusting for technical and population biases, we identified a SNP at 6q23 (rs10499194, approximately 150 kb from TNFAIP3 and OLIG3) that was reproducibly associated with rheumatoid arthritis both in the genome-wide association (GWA) scan and in 5,541 additional case-control samples (P = 10(-3), GWA scan; P < 10(-6), replication; P = 10(-9), combined). In a concurrent study, the Wellcome Trust Case Control Consortium (WTCCC) has reported strong association of rheumatoid arthritis susceptibility to a different SNP located 3.8 kb from rs10499194 (rs6920220; P = 5 x 10(-6) in WTCCC). We show that these two SNP associations are statistically independent, are each reproducible in the comparison of our data and WTCCC data, and define risk and protective haplotypes for rheumatoid arthritis at 6q23. 相似文献
276.
为寻找精子在受精滴中的最佳平衡时间, 以加入精子时间为0 h (对照组), 分别在0h, 0.5 h, 1 h, 2 h, 4 h 随机加入等数卵母细胞到各受精滴, 结果显示: 0 h, 0.5 h 组卵裂率较高, 分别为87.7% 、84.7% , 与其他组相比差异显著( P< 0.01); 0.5h 组的囊胚率最高,为67.5% ,与对照组的57.7% 比较差异显著( P< 0.01)。结果表明,受精滴中精子经过0.5h 平衡后, 弱精及死精粘聚沉淀, 余下活力强的健壮精子, 此时加入牛卵母细胞受精, 可获得较高卵裂率及囊胚率 相似文献
277.
Chris Chatfield 《Journal of forecasting》1996,15(7):495-508
In time-series analysis, a model is rarely pre-specified but rather is typically formulated in an iterative, interactive way using the given time-series data. Unfortunately the properties of the fitted model, and the forecasts from it, are generally calculated as if the model were known in the first place. This is theoretically incorrect, as least squares theory, for example, does not apply when the same data are used to formulates and fit a model. Ignoring prior model selection leads to biases, not only in estimates of model parameters but also in the subsequent construction of prediction intervals. The latter are typically too narrow, partly because they do not allow for model uncertainty. Empirical results also suggest that more complicated models tend to give a better fit but poorer ex-ante forecasts. The reasons behind these phenomena are reviewed. When comparing different forecasting models, the BIC is preferred to the AIC for identifying a model on the basis of within-sample fit, but out-of-sample forecasting accuracy provides the real test. Alternative approaches to forecasting, which avoid conditioning on a single model, include Bayesian model averaging and using a forecasting method which is not model-based but which is designed to be adaptable and robust. 相似文献
278.
O'Donovan MC Craddock N Norton N Williams H Peirce T Moskvina V Nikolov I Hamshere M Carroll L Georgieva L Dwyer S Holmans P Marchini JL Spencer CC Howie B Leung HT Hartmann AM Möller HJ Morris DW Shi Y Feng G Hoffmann P Propping P Vasilescu C Maier W Rietschel M Zammit S Schumacher J Quinn EM Schulze TG Williams NM Giegling I Iwata N Ikeda M Darvasi A Shifman S He L Duan J Sanders AR Levinson DF Gejman PV Cichon S Nöthen MM Gill M Corvin A Rujescu D Kirov G Owen MJ Buccola NG Mowry BJ 《Nature genetics》2008,40(9):1053-1055
We carried out a genome-wide association study of schizophrenia (479 cases, 2,937 controls) and tested loci with P < 10(-5) in up to 16,726 additional subjects. Of 12 loci followed up, 3 had strong independent support (P < 5 x 10(-4)), and the overall pattern of replication was unlikely to occur by chance (P = 9 x 10(-8)). Meta-analysis provided strongest evidence for association around ZNF804A (P = 1.61 x 10(-7)) and this strengthened when the affected phenotype included bipolar disorder (P = 9.96 x 10(-9)). 相似文献
279.
Barnes C Plagnol V Fitzgerald T Redon R Marchini J Clayton D Hurles ME 《Nature genetics》2008,40(10):1245-1252
Copy number variation (CNV) is pervasive in the human genome and can play a causal role in genetic diseases. The functional impact of CNV cannot be fully captured through linkage disequilibrium with SNPs. These observations motivate the development of statistical methods for performing direct CNV association studies. We show through simulation that current tests for CNV association are prone to false-positive associations in the presence of differential errors between cases and controls, especially if quantitative CNV measurements are noisy. We present a statistical framework for performing case-control CNV association studies that applies likelihood ratio testing of quantitative CNV measurements in cases and controls. We show that our methods are robust to differential errors and noisy data and can achieve maximal theoretical power. We illustrate the power of these methods for testing for association with binary and quantitative traits, and have made this software available as the R package CNVtools. 相似文献
280.
Di Bernardo MC Crowther-Swanepoel D Broderick P Webb E Sellick G Wild R Sullivan K Vijayakrishnan J Wang Y Pittman AM Sunter NJ Hall AG Dyer MJ Matutes E Dearden C Mainou-Fowler T Jackson GH Summerfield G Harris RJ Pettitt AR Hillmen P Allsup DJ Bailey JR Pratt G Pepper C Fegan C Allan JM Catovsky D Houlston RS 《Nature genetics》2008,40(10):1204-1210
We conducted a genome-wide association study of 299,983 tagging SNPs for chronic lymphocytic leukemia (CLL) and performed validation in two additional series totaling 1,529 cases and 3,115 controls. We identified six previously unreported CLL risk loci at 2q13 (rs17483466; P = 2.36 x 10(-10)), 2q37.1 (rs13397985, SP140; P = 5.40 x 10(-10)), 6p25.3 (rs872071, IRF4; P = 1.91 x 10(-20)), 11q24.1 (rs735665; P = 3.78 x 10(-12)), 15q23 (rs7176508; P = 4.54 x 10(-12)) and 19q13.32 (rs11083846, PRKD2; P = 3.96 x 10(-9)). These data provide the first evidence for the existence of common, low-penetrance susceptibility to a hematological malignancy and new insights into disease causation in CLL. 相似文献