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排序方式: 共有98条查询结果,搜索用时 31 毫秒
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Weinberger S 《Nature》2011,474(7350):142-145
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Ley TJ Mardis ER Ding L Fulton B McLellan MD Chen K Dooling D Dunford-Shore BH McGrath S Hickenbotham M Cook L Abbott R Larson DE Koboldt DC Pohl C Smith S Hawkins A Abbott S Locke D Hillier LW Miner T Fulton L Magrini V Wylie T Glasscock J Conyers J Sander N Shi X Osborne JR Minx P Gordon D Chinwalla A Zhao Y Ries RE Payton JE Westervelt P Tomasson MH Watson M Baty J Ivanovich J Heath S Shannon WD Nagarajan R Walter MJ Link DC Graubert TA DiPersio JF Wilson RK 《Nature》2008,456(7218):66-72
Acute myeloid leukaemia is a highly malignant haematopoietic tumour that affects about 13,000 adults in the United States each year. The treatment of this disease has changed little in the past two decades, because most of the genetic events that initiate the disease remain undiscovered. Whole-genome sequencing is now possible at a reasonable cost and timeframe to use this approach for the unbiased discovery of tumour-specific somatic mutations that alter the protein-coding genes. Here we present the results obtained from sequencing a typical acute myeloid leukaemia genome, and its matched normal counterpart obtained from the same patient's skin. We discovered ten genes with acquired mutations; two were previously described mutations that are thought to contribute to tumour progression, and eight were new mutations present in virtually all tumour cells at presentation and relapse, the function of which is not yet known. Our study establishes whole-genome sequencing as an unbiased method for discovering cancer-initiating mutations in previously unidentified genes that may respond to targeted therapies. 相似文献
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Mangan PR Harrington LE O'Quinn DB Helms WS Bullard DC Elson CO Hatton RD Wahl SM Schoeb TR Weaver CT 《Nature》2006,441(7090):231-234
A new lineage of effector CD4+ T cells characterized by production of interleukin (IL)-17, the T-helper-17 (T(H)17) lineage, was recently described based on developmental and functional features distinct from those of classical T(H)1 and T(H)2 lineages. Like T(H)1 and T(H)2, T(H)17 cells almost certainly evolved to provide adaptive immunity tailored to specific classes of pathogens, such as extracellular bacteria. Aberrant T(H)17 responses have been implicated in a growing list of autoimmune disorders. T(H)17 development has been linked to IL-23, an IL-12 cytokine family member that shares with IL-12 a common subunit, IL-12p40 (ref. 8). The IL-23 and IL-12 receptors also share a subunit, IL-12Rbeta1, that pairs with unique, inducible components, IL-23R and IL-12Rbeta2, to confer receptor responsiveness. Here we identify transforming growth factor-beta (TGF-beta) as a cytokine critical for commitment to T(H)17 development. TGF-beta acts to upregulate IL-23R expression, thereby conferring responsiveness to IL-23. Although dispensable for the development of IL-17-producing T cells in vitro and in vivo, IL-23 is required for host protection against a bacterial pathogen, Citrobacter rodentium. The action of TGF-beta on naive T cells is antagonized by interferon-gamma and IL-4, thus providing a mechanism for divergence of the T(H)1, T(H)2 and T(H)17 lineages. 相似文献
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de Oliveira T Pybus OG Rambaut A Salemi M Cassol S Ciccozzi M Rezza G Gattinara GC D'Arrigo R Amicosante M Perrin L Colizzi V Perno CF;Benghazi Study Group 《Nature》2006,444(7121):836-837
In 1998, outbreaks of human immunodeficiency virus type 1 (HIV-1) and hepatitis C virus (HCV) infection were reported in children attending Al-Fateh Hospital in Benghazi, Libya. Here we use molecular phylogenetic techniques to analyse new virus sequences from these outbreaks. We find that the HIV-1 and HCV strains were already circulating and prevalent in this hospital and its environs before the arrival in March 1998 of the foreign medical staff (five Bulgarian nurses and a Palestinian doctor) who stand accused of transmitting the HIV strain to the children. 相似文献
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James TY Kauff F Schoch CL Matheny PB Hofstetter V Cox CJ Celio G Gueidan C Fraker E Miadlikowska J Lumbsch HT Rauhut A Reeb V Arnold AE Amtoft A Stajich JE Hosaka K Sung GH Johnson D O'Rourke B Crockett M Binder M Curtis JM Slot JC Wang Z Wilson AW Schüssler A Longcore JE O'Donnell K Mozley-Standridge S Porter D Letcher PM Powell MJ Taylor JW White MM Griffith GW Davies DR Humber RA Morton JB Sugiyama J Rossman AY Rogers JD Pfister DH Hewitt D Hansen K Hambleton S Shoemaker RA Kohlmeyer J 《Nature》2006,443(7113):818-822
The ancestors of fungi are believed to be simple aquatic forms with flagellated spores, similar to members of the extant phylum Chytridiomycota (chytrids). Current classifications assume that chytrids form an early-diverging clade within the kingdom Fungi and imply a single loss of the spore flagellum, leading to the diversification of terrestrial fungi. Here we develop phylogenetic hypotheses for Fungi using data from six gene regions and nearly 200 species. Our results indicate that there may have been at least four independent losses of the flagellum in the kingdom Fungi. These losses of swimming spores coincided with the evolution of new mechanisms of spore dispersal, such as aerial dispersal in mycelial groups and polar tube eversion in the microsporidia (unicellular forms that lack mitochondria). The enigmatic microsporidia seem to be derived from an endoparasitic chytrid ancestor similar to Rozella allomycis, on the earliest diverging branch of the fungal phylogenetic tree. 相似文献