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171.
Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10 总被引:25,自引:0,他引:25
Matsuura T Yamagata T Burgess DL Rasmussen A Grewal RP Watase K Khajavi M McCall AE Davis CF Zu L Achari M Pulst SM Alonso E Noebels JL Nelson DL Zoghbi HY Ashizawa T 《Nature genetics》2000,26(2):191-194
Spinocerebellar ataxia type 10 (SCA10; MIM 603516; refs 1,2) is an autosomal dominant disorder characterized by cerebellar ataxia and seizures. The gene SCA10 maps to a 3.8-cM interval on human chromosome 22q13-qter (refs 1,2). Because several other SCA subtypes show trinucleotide repeat expansions, we examined microsatellites in this region. We found an expansion of a pentanucleotide (ATTCT) repeat in intron 9 of SCA10 in all patients in five Mexican SCA10 families. There was an inverse correlation between the expansion size, up to 22.5 kb larger than the normal allele, and the age of onset (r2=0.34, P=0.018). Analysis of 562 chromosomes from unaffected individuals of various ethnic origins (including 242 chromosomes from Mexican persons) showed a range of 10 to 22 ATTCT repeats with no evidence of expansions. Our data indicate that the new SCA10 intronic ATTCT pentanucleotide repeat in SCA10 patients is unstable and represents the largest microsatellite expansion found so far in the human genome. 相似文献
172.
173.
Sulfur is an advantageous material as a promising next-generation positive electrode material for high-energy lithium batteries due to a high theoretical capacity of 1672 m A h g 1although its discharge potential is somewhat modest:ca.2 V vs Li/Lit.However,a sulfur positive electrode has some crucial problems for practical use,which are mainly attributed to the dissolution of its intermediate products in charge–discharge processes.In order to resolve the dissolution problem of lithium polysulfide,we attempted to synthesize a sulfur–microporous activated carbon(AC) composite positive electrode.Moreover,we have systematically researched the battery performance of sulfur–microporous AC positive electrode with variations of electrolytes as well as negative electrodes,and found its promising positive electrode performance for a nextgeneration rechargeable battery. 相似文献
174.
药品和个人护理用品类污染物(PPCPs)是环境问题中的一个重要问题,该文论述了其在环境领域的研究进展。PPCPs是日常生活中大量使用和排放的多种化合物统称,此类污染物主要是通过城市污水处理系统进入地表水体,或通过相关行业废水的直接排放而污染水环境;通过影响环境生物体内的氧化还原平衡状态而造成细胞毒性。目前针对该类污染物的定量检测方法为固相或液相萃取后接LC-MS或LC-MS2测定;有效的去除工艺是以臭氧氧化为主的单独或组合工艺。 相似文献
175.
Ota T Suzuki Y Nishikawa T Otsuki T Sugiyama T Irie R Wakamatsu A Hayashi K Sato H Nagai K Kimura K Makita H Sekine M Obayashi M Nishi T Shibahara T Tanaka T Ishii S Yamamoto J Saito K Kawai Y Isono Y Nakamura Y Nagahari K Murakami K Yasuda T Iwayanagi T Wagatsuma M Shiratori A Sudo H Hosoiri T Kaku Y Kodaira H Kondo H Sugawara M Takahashi M Kanda K Yokoi T Furuya T Kikkawa E Omura Y Abe K Kamihara K Katsuta N Sato K Tanikawa M Yamazaki M Ninomiya K Ishibashi T Yamashita H Murakawa K Fujimori K 《Nature genetics》2004,36(1):40-45
176.
车辆起-停巡航控制系统的加速度跟踪控制 总被引:2,自引:0,他引:2
针对低速行驶工况下的车辆StopandGo(起停)巡航控制系统,在研究其加速度动态响应非线性特性的基础上,设计了一种基于滑模变结构控制(SMC)的模型匹配控制器,该控制器综合了SMC的鲁棒性及模型匹配控制(MMC)快速响应的优点。通过仿真计算,结果表明该控制器不但能有效提高车辆在低速工况下加速度的快速跟踪性,而且还改善了系统对外界干扰的鲁棒性能。 相似文献
177.
Chemotaxis in Caenorhabditis elegans, like chemotaxis in bacteria, involves a random walk biased by the time derivative of attractant concentration, but how the derivative is computed is unknown. Laser ablations have shown that the strongest deficits in chemotaxis to salts are obtained when the ASE chemosensory neurons (ASEL and ASER) are ablated, indicating that this pair has a dominant role. Although these neurons are left-right homologues anatomically, they exhibit marked asymmetries in gene expression and ion preference. Here, using optical recordings of calcium concentration in ASE neurons in intact animals, we demonstrate an additional asymmetry: ASEL is an ON-cell, stimulated by increases in NaCl concentration, whereas ASER is an OFF-cell, stimulated by decreases in NaCl concentration. Both responses are reliable yet transient, indicating that ASE neurons report changes in concentration rather than absolute levels. Recordings from synaptic and sensory transduction mutants show that the ON-OFF asymmetry is the result of intrinsic differences between ASE neurons. Unilateral activation experiments indicate that the asymmetry extends to the level of behavioural output: ASEL lengthens bouts of forward locomotion (runs) whereas ASER promotes direction changes (turns). Notably, the input and output asymmetries of ASE neurons are precisely those of a simple yet novel neuronal motif for computing the time derivative of chemosensory information, which is the fundamental computation of C. elegans chemotaxis. Evidence for ON and OFF cells in other chemosensory networks suggests that this motif may be common in animals that navigate by taste and smell. 相似文献