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排序方式: 共有442条查询结果,搜索用时 15 毫秒
381.
McKay JD Hung RJ Gaborieau V Boffetta P Chabrier A Byrnes G Zaridze D Mukeria A Szeszenia-Dabrowska N Lissowska J Rudnai P Fabianova E Mates D Bencko V Foretova L Janout V McLaughlin J Shepherd F Montpetit A Narod S Krokan HE Skorpen F Elvestad MB Vatten L Njølstad I Axelsson T Chen C Goodman G Barnett M Loomis MM Lubiñski J Matyjasik J Lener M Oszutowska D Field J Liloglou T Xinarianos G Cassidy A;EPIC Study Vineis P Clavel-Chapelon F Palli D Tumino R Krogh V Panico S González CA 《Nature genetics》2008,40(12):1404-1406
We carried out a genome-wide association study of lung cancer (3,259 cases and 4,159 controls), followed by replication in 2,899 cases and 5,573 controls. Two uncorrelated disease markers at 5p15.33, rs402710 and rs2736100 were detected by the genome-wide data (P = 2 x 10(-7) and P = 4 x 10(-6)) and replicated by the independent study series (P = 7 x 10(-5) and P = 0.016). The susceptibility region contains two genes, TERT and CLPTM1L, suggesting that one or both may have a role in lung cancer etiology. 相似文献
382.
Parvari R Hershkovitz E Grossman N Gorodischer R Loeys B Zecic A Mortier G Gregory S Sharony R Kambouris M Sakati N Meyer BF Al Aqeel AI Al Humaidan AK Al Zanhrani F Al Swaid A Al Othman J Diaz GA Weiner R Khan KT Gordon R Gelb BD;HRD/Autosomal Recessive Kenny-Caffey Syndrome Consortium 《Nature genetics》2002,32(3):448-452
The syndrome of congenital hypoparathyroidism, mental retardation, facial dysmorphism and extreme growth failure (HRD or Sanjad-Sakati syndrome; OMIM 241410) is an autosomal recessive disorder reported almost exclusively in Middle Eastern populations. A similar syndrome with the additional features of osteosclerosis and recurrent bacterial infections has been classified as autosomal recessive Kenny-Caffey syndrome (AR-KCS; OMIM 244460). Both traits have previously been mapped to chromosome 1q43-44 (refs 5,6) and, despite the observed clinical variability, share an ancestral haplotype, suggesting a common founder mutation. We describe refinement of the critical region to an interval of roughly 230 kb and identification of deletion and truncation mutations of TBCE in affected individuals. The gene TBCE encodes one of several chaperone proteins required for the proper folding of alpha-tubulin subunits and the formation of alpha-beta-tubulin heterodimers. Analysis of diseased fibroblasts and lymphoblastoid cells showed lower microtubule density at the microtubule-organizing center (MTOC) and perturbed microtubule polarity in diseased cells. Immunofluorescence and ultrastructural studies showed disturbances in subcellular organelles that require microtubules for membrane trafficking, such as the Golgi and late endosomal compartments. These findings demonstrate that HRD and AR-KCS are chaperone diseases caused by a genetic defect in the tubulin assembly pathway, and establish a potential connection between tubulin physiology and the development of the parathyroid. 相似文献
383.
Roscioli T Cliffe ST Bloch DB Bell CG Mullan G Taylor PJ Sarris M Wang J Donald JA Kirk EP Ziegler JB Salzer U McDonald GB Wong M Lindeman R Buckley MF 《Nature genetics》2006,38(6):620-622
We describe mutations in the PML nuclear body protein Sp110 in the syndrome veno-occlusive disease with immunodeficiency, an autosomal recessive disorder of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease. This is the first report of the involvement of a nuclear body protein in a human primary immunodeficiency and of high-penetrance genetic mutations in hepatic veno-occlusive disease. 相似文献
384.
385.
Ioannidis JP Gwinn M Little J Higgins JP Bernstein JL Boffetta P Bondy M Bray MS Brenchley PE Buffler PA Casas JP Chokkalingam A Danesh J Smith GD Dolan S Duncan R Gruis NA Hartge P Hashibe M Hunter DJ Jarvelin MR Malmer B Maraganore DM Newton-Bishop JA O'Brien TR Petersen G Riboli E Salanti G Seminara D Smeeth L Taioli E Timpson N Uitterlinden AG Vineis P Wareham N Winn DM Zimmern R Khoury MJ;Human Genome Epidemiology Network the Network of Investigator Networks 《Nature genetics》2006,38(1):3-5
Networks of investigators have begun sharing best practices, tools and methods for analysis of associations between genetic variation and common diseases. A Network of Investigator Networks has been set up to drive the process, sponsored by the Human Genome Epidemiology Network. A workshop is planned to develop consensus guidelines for reporting results of genetic association studies. Published literature databases will be integrated, and unpublished data, including 'negative' studies, will be captured by online journals and through investigator networks. Systematic reviews will be expanded to include more meta-analyses of individual-level data and prospective meta-analyses. Field synopses will offer regularly updated overviews. 相似文献
386.
2005年诺贝尔生理学或医学奖授予澳大利亚科学家巴里·马歇尔(Barry Marshall)和罗宾·沃伦(Robin Warren),以表彰他们发现了导致人类罹患胃炎、胃溃疡和十二指肠溃疡的罪魁--幽门螺杆菌(Helicobacter pylori,Hp).这项近乎"平民化"的研究成果相对于当今发展飞快的分子生物学、神经科学以及干细胞研究等领域而言,无疑是一个震撼性的消息.它提示了传统的病原微生物研究并没有退出历史的舞台,恰恰相反,证实了科学研究在平淡中见"奇"之特点.时下包括禽流感等在内的高危传染性疾病近乎是愈演愈烈,也表明对病原微生物深入地开展全方位系统研究的紧迫性和必要性. 相似文献
387.
388.
The limits to tree height 总被引:6,自引:0,他引:6
Trees grow tall where resources are abundant, stresses are minor, and competition for light places a premium on height growth. The height to which trees can grow and the biophysical determinants of maximum height are poorly understood. Some models predict heights of up to 120 m in the absence of mechanical damage, but there are historical accounts of taller trees. Current hypotheses of height limitation focus on increasing water transport constraints in taller trees and the resulting reductions in leaf photosynthesis. We studied redwoods (Sequoia sempervirens), including the tallest known tree on Earth (112.7 m), in wet temperate forests of northern California. Our regression analyses of height gradients in leaf functional characteristics estimate a maximum tree height of 122-130 m barring mechanical damage, similar to the tallest recorded trees of the past. As trees grow taller, increasing leaf water stress due to gravity and path length resistance may ultimately limit leaf expansion and photosynthesis for further height growth, even with ample soil moisture. 相似文献
389.
Prolactin and parental behaviour in a male New World primate 总被引:2,自引:0,他引:2
390.
欧洲一体化运动兴起以来,欧洲联盟面临一第列严重的问题,其中台刀约的修订,欧共体成员国扩大而引起的矛盾,与高生活水平同时存在的高失业率等。由此说明,欧盟的组织结构已不适应新形势的需要,需对其进行彻底“检修”。 相似文献