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排序方式: 共有183条查询结果,搜索用时 15 毫秒
1.
We recently reported on a linkage study within a Quarter Horse lineage segregating hyperkalaemic periodic paralysis (HYPP), an autosomal dominant condition showing potassium-induced attacks of skeletal muscle paralysis. HYPP co-segregated with the equine adult skeletal muscle sodium channel alpha subunit gene, the same gene that causes human HYPP. We now describe the Phe to Leu mutation in transmembrane domain IVS3 which courses the horse disease. This represents the first application of molecular genetics to an important horse disease, and the data will provide an opportunity for control or eradication of this condition. 相似文献
2.
Production logistics involve the co-ordination of ac tivities such as production and materials control (PMC), inventory management, p roduct life cycle management, etc. Those activities demand for an accurate forec asting model. However, the conventional methods of making sell and buy decision based on human forecast or conventional moving average and exponential smoothing methods is no longer be sufficient to meet the future need. Furthermore, the un derlying statistics of the market information change ... 相似文献
3.
针对二进制第Ⅱ类混合自动请求重传差错控制系统流量偏低的问题,提出了基于Reed-Solomon(RS)码的多进制混合自动请求重传方案.该方案将信息经RS码编码后,采用多进制调制,信息部分与校验部分分开传输,码的可逆性使得仅由无误的校验部分便可恢复出信息,利于提高流量.数值结果表明,该方案在Rician衰落信道下的流量比传统的二进制方案有了明显提高,同时可靠性依然保持与二进制方案相同的水平. 相似文献
4.
Metagenomic and functional analysis of hindgut microbiota of a wood-feeding higher termite 总被引:6,自引:0,他引:6
Warnecke F Luginbühl P Ivanova N Ghassemian M Richardson TH Stege JT Cayouette M McHardy AC Djordjevic G Aboushadi N Sorek R Tringe SG Podar M Martin HG Kunin V Dalevi D Madejska J Kirton E Platt D Szeto E Salamov A Barry K Mikhailova N Kyrpides NC Matson EG Ottesen EA Zhang X Hernández M Murillo C Acosta LG Rigoutsos I Tamayo G Green BD Chang C Rubin EM Mathur EJ Robertson DE Hugenholtz P Leadbetter JR 《Nature》2007,450(7169):560-565
From the standpoints of both basic research and biotechnology, there is considerable interest in reaching a clearer understanding of the diversity of biological mechanisms employed during lignocellulose degradation. Globally, termites are an extremely successful group of wood-degrading organisms and are therefore important both for their roles in carbon turnover in the environment and as potential sources of biochemical catalysts for efforts aimed at converting wood into biofuels. Only recently have data supported any direct role for the symbiotic bacteria in the gut of the termite in cellulose and xylan hydrolysis. Here we use a metagenomic analysis of the bacterial community resident in the hindgut paunch of a wood-feeding 'higher' Nasutitermes species (which do not contain cellulose-fermenting protozoa) to show the presence of a large, diverse set of bacterial genes for cellulose and xylan hydrolysis. Many of these genes were expressed in vivo or had cellulase activity in vitro, and further analyses implicate spirochete and fibrobacter species in gut lignocellulose degradation. New insights into other important symbiotic functions including H2 metabolism, CO2-reductive acetogenesis and N2 fixation are also provided by this first system-wide gene analysis of a microbial community specialized towards plant lignocellulose degradation. Our results underscore how complex even a 1-microl environment can be. 相似文献
5.
6.
Bedding TR Mosser B Huber D Montalbán J Beck P Christensen-Dalsgaard J Elsworth YP García RA Miglio A Stello D White TR De Ridder J Hekker S Aerts C Barban C Belkacem K Broomhall AM Brown TM Buzasi DL Carrier F Chaplin WJ Di Mauro MP Dupret MA Frandsen S Gilliland RL Goupil MJ Jenkins JM Kallinger T Kawaler S Kjeldsen H Mathur S Noels A Aguirre VS Ventura P 《Nature》2011,471(7340):608-611
Red giants are evolved stars that have exhausted the supply of hydrogen in their cores and instead burn hydrogen in a surrounding shell. Once a red giant is sufficiently evolved, the helium in the core also undergoes fusion. Outstanding issues in our understanding of red giants include uncertainties in the amount of mass lost at the surface before helium ignition and the amount of internal mixing from rotation and other processes. Progress is hampered by our inability to distinguish between red giants burning helium in the core and those still only burning hydrogen in a shell. Asteroseismology offers a way forward, being a powerful tool for probing the internal structures of stars using their natural oscillation frequencies. Here we report observations of gravity-mode period spacings in red giants that permit a distinction between evolutionary stages to be made. We use high-precision photometry obtained by the Kepler spacecraft over more than a year to measure oscillations in several hundred red giants. We find many stars whose dipole modes show sequences with approximately regular period spacings. These stars fall into two clear groups, allowing us to distinguish unambiguously between hydrogen-shell-burning stars (period spacing mostly ~ 50 seconds) and those that are also burning helium (period spacing ~ 100 to 300 seconds). 相似文献
7.
8.
Zhang Z Lee JC Lin L Olivas V Au V LaFramboise T Abdel-Rahman M Wang X Levine AD Rho JK Choi YJ Choi CM Kim SW Jang SJ Park YS Kim WS Lee DH Lee JS Miller VA Arcila M Ladanyi M Moonsamy P Sawyers C Boggon TJ Ma PC Costa C Taron M Rosell R Halmos B Bivona TG 《Nature genetics》2012,44(8):852-860
Human non-small cell lung cancers (NSCLCs) with activating mutations in EGFR frequently respond to treatment with EGFR-targeted tyrosine kinase inhibitors (TKIs), such as erlotinib, but responses are not durable, as tumors acquire resistance. Secondary mutations in EGFR (such as T790M) or upregulation of the MET kinase are found in over 50% of resistant tumors. Here, we report increased activation of AXL and evidence for epithelial-to-mesenchymal transition (EMT) in multiple in vitro and in vivo EGFR-mutant lung cancer models with acquired resistance to erlotinib in the absence of the EGFR p.Thr790Met alteration or MET activation. Genetic or pharmacological inhibition of AXL restored sensitivity to erlotinib in these tumor models. Increased expression of AXL and, in some cases, of its ligand GAS6 was found in EGFR-mutant lung cancers obtained from individuals with acquired resistance to TKIs. These data identify AXL as a promising therapeutic target whose inhibition could prevent or overcome acquired resistance to EGFR TKIs in individuals with EGFR-mutant lung cancer. 相似文献
9.
Rooryck C Diaz-Font A Osborn DP Chabchoub E Hernandez-Hernandez V Shamseldin H Kenny J Waters A Jenkins D Kaissi AA Leal GF Dallapiccola B Carnevale F Bitner-Glindzicz M Lees M Hennekam R Stanier P Burns AJ Peeters H Alkuraya FS Beales PL 《Nature genetics》2011,43(3):197-203
3MC syndrome has been proposed as a unifying term encompassing the overlapping Carnevale, Mingarelli, Malpuech and Michels syndromes. These rare autosomal recessive disorders exhibit a spectrum of developmental features, including characteristic facial dysmorphism, cleft lip and/or palate, craniosynostosis, learning disability and genital, limb and vesicorenal anomalies. Here we studied 11 families with 3MC syndrome and identified two mutated genes, COLEC11 and MASP1, both of which encode proteins in the lectin complement pathway (collectin kidney 1 (CL-K1) and MASP-1 and MASP-3, respectively). CL-K1 is highly expressed in embryonic murine craniofacial cartilage, heart, bronchi, kidney and vertebral bodies. Zebrafish morphants for either gene develop pigmentary defects and severe craniofacial abnormalities. Finally, we show that CL-K1 serves as a guidance cue for neural crest cell migration. Together, these findings demonstrate a role for complement pathway factors in fundamental developmental processes and in the etiology of 3MC syndrome. 相似文献
10.
Greenway MJ Andersen PM Russ C Ennis S Cashman S Donaghy C Patterson V Swingler R Kieran D Prehn J Morrison KE Green A Acharya KR Brown RH Hardiman O 《Nature genetics》2006,38(4):411-413
We recently identified angiogenin (ANG) as a candidate susceptibility gene for amyotrophic lateral sclerosis (ALS), a neurodegenerative disorder characterized by adult-onset loss of motor neurons. We now report the finding of seven missense mutations in 15 individuals, of whom four had familial ALS and 11 apparently 'sporadic' ALS. Our findings provide further evidence that variations in hypoxia-inducible genes have an important role in motor neuron degeneration. 相似文献