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61.
Sánchez-García Jacqueline Y. Núñez-Ríos Juan E. Soto-Pérez Manuel Cardoso-Castro Pedro Pablo Rodríguez-Magaña Alejandro 《Systemic Practice and Action Research》2020,33(1):1-25
Systemic Practice and Action Research - This article proposes a model based on the integration of systemic mechanisms such as the soft systems methodology, partial least squares path modelling and... 相似文献
62.
Ding L Ley TJ Larson DE Miller CA Koboldt DC Welch JS Ritchey JK Young MA Lamprecht T McLellan MD McMichael JF Wallis JW Lu C Shen D Harris CC Dooling DJ Fulton RS Fulton LL Chen K Schmidt H Kalicki-Veizer J Magrini VJ Cook L McGrath SD Vickery TL Wendl MC Heath S Watson MA Link DC Tomasson MH Shannon WD Payton JE Kulkarni S Westervelt P Walter MJ Graubert TA Mardis ER Wilson RK DiPersio JF 《Nature》2012,481(7382):506-510
Most patients with acute myeloid leukaemia (AML) die from progressive disease after relapse, which is associated with clonal evolution at the cytogenetic level. To determine the mutational spectrum associated with relapse, we sequenced the primary tumour and relapse genomes from eight AML patients, and validated hundreds of somatic mutations using deep sequencing; this allowed us to define clonality and clonal evolution patterns precisely at relapse. In addition to discovering novel, recurrently mutated genes (for example, WAC, SMC3, DIS3, DDX41 and DAXX) in AML, we also found two major clonal evolution patterns during AML relapse: (1) the founding clone in the primary tumour gained mutations and evolved into the relapse clone, or (2) a subclone of the founding clone survived initial therapy, gained additional mutations and expanded at relapse. In all cases, chemotherapy failed to eradicate the founding clone. The comparison of relapse-specific versus primary tumour mutations in all eight cases revealed an increase in transversions, probably due to DNA damage caused by cytotoxic chemotherapy. These data demonstrate that AML relapse is associated with the addition of new mutations and clonal evolution, which is shaped, in part, by the chemotherapy that the patients receive to establish and maintain remissions. 相似文献
63.
Shankar Sankaran Bob Dick Kelly Shaw Colleen Cartwright Alan Davies Jacqueline Kelly Barb Vindin 《Systemic Practice and Action Research》2014,27(6):551-573
This article illustrates how scenario planning (SP) and scenario analysis as can be conceptualised as practices contributing to an action research (AR) investigation of leadership development. The project described in this article was intended to strengthen leadership capacity in Australia’s rapidly changing aged care and community care sector. A research team comprising academics from three universities and managers from two faith-based not-for-profit organisations providing aged and community care participated in this study. As part of the research, two sets of scenario-based workshops were held: the first, to identify possible futures using SP; and the second, to deal with plausible scenarios these organisations are likely to face with the changes happening in the aged care environment in Australia by using scenario analysis. Although the researchers did not consider a link between practice theory and AR during the SP phase, practice theory became useful during the scenario analysis phase. The article includes a brief literature review followed by a discussion on the relationship between AR and practice theory. The processes used in the two sets of scenario workshops are then described in detail along with the data collected and analysed. The article concludes with some reflections on the use of scenarios in practice as well as an acknowledgment that practice theory would be useful in investigating leadership capability development. 相似文献
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Koolen DA Vissers LE Pfundt R de Leeuw N Knight SJ Regan R Kooy RF Reyniers E Romano C Fichera M Schinzel A Baumer A Anderlid BM Schoumans J Knoers NV van Kessel AG Sistermans EA Veltman JA Brunner HG de Vries BB 《Nature genetics》2006,38(9):999-1001
Submicroscopic genomic copy number changes have been identified only recently as an important cause of mental retardation. We describe the detection of three interstitial, overlapping 17q21.31 microdeletions in a cohort of 1,200 mentally retarded individuals associated with a clearly recognizable clinical phenotype of mental retardation, hypotonia and a characteristic face. The deletions encompass the MAPT and CRHR1 genes and are associated with a common inversion polymorphism. 相似文献
66.
Estrada K Styrkarsdottir U Evangelou E Hsu YH Duncan EL Ntzani EE Oei L Albagha OM Amin N Kemp JP Koller DL Li G Liu CT Minster RL Moayyeri A Vandenput L Willner D Xiao SM Yerges-Armstrong LM Zheng HF Alonso N Eriksson J Kammerer CM Kaptoge SK Leo PJ Thorleifsson G Wilson SG Wilson JF Aalto V Alen M Aragaki AK Aspelund T Center JR Dailiana Z Duggan DJ Garcia M Garcia-Giralt N Giroux S Hallmans G Hocking LJ Husted LB Jameson KA Khusainova R Kim GS Kooperberg C Koromila T Kruk M Laaksonen M 《Nature genetics》2012,44(5):491-501
Bone mineral density (BMD) is the most widely used predictor of fracture risk. We performed the largest meta-analysis to date on lumbar spine and femoral neck BMD, including 17 genome-wide association studies and 32,961 individuals of European and east Asian ancestry. We tested the top BMD-associated markers for replication in 50,933 independent subjects and for association with risk of low-trauma fracture in 31,016 individuals with a history of fracture (cases) and 102,444 controls. We identified 56 loci (32 new) associated with BMD at genome-wide significance (P < 5 × 10(-8)). Several of these factors cluster within the RANK-RANKL-OPG, mesenchymal stem cell differentiation, endochondral ossification and Wnt signaling pathways. However, we also discovered loci that were localized to genes not known to have a role in bone biology. Fourteen BMD-associated loci were also associated with fracture risk (P < 5 × 10(-4), Bonferroni corrected), of which six reached P < 5 × 10(-8), including at 18p11.21 (FAM210A), 7q21.3 (SLC25A13), 11q13.2 (LRP5), 4q22.1 (MEPE), 2p16.2 (SPTBN1) and 10q21.1 (DKK1). These findings shed light on the genetic architecture and pathophysiological mechanisms underlying BMD variation and fracture susceptibility. 相似文献
67.
In this paper we develop a version of the Jackknife which seems especially suited for Multidimensional Scaling. It deletes one stimulus at a time, and combines the resulting solutions by a least squares matching method. The results can be used for stability analysis, and for purposes of cross validation. 相似文献
68.
G. Renaud Jacqueline Marais R. Infante 《Cellular and molecular life sciences : CMLS》1980,36(6):642-643
Summary After 24-h fasting, when the recovery of plasma membrane protein isolated from rat liver was unchanged, the enrichment in 5-nucleotidase was decreased by 16%. Modifications of the lipid composition were also observed and resulted in a 27% decrease of the cholesterol/phospholipid molar ratio. 相似文献
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70.
A substantial uncertainty in the Earth's global geochemical water cycle is the amount of water that enters the deep mantle through the subduction and recycling of hydrated oceanic lithosphere. Here we address the question of recycling of water into the deep mantle by characterizing the volatile contents of different mantle components as sampled by ocean island basalts and mid-ocean-ridge basalts. Although all mantle plume (ocean island) basalts seem to contain more water than mid-ocean-ridge basalts, we demonstrate that basalts associated with mantle plume components containing subducted lithosphere--'enriched-mantle' or 'EM-type' basalts--contain less water than those associated with a common mantle source. We interpret this depletion as indicating that water is extracted from the lithosphere during the subduction process, with greater than 92 per cent efficiency. 相似文献