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排序方式: 共有48条查询结果,搜索用时 15 毫秒
1.
Brugada syndrome (BrS) is an inherited cardiac arrhythmia that predisposes to ventricular fibrillation and sudden cardiac death. It originates from oligogenic alterations that affect cardiac ion channels or their accessory proteins. The main hurdle for the study of the functional effects of those variants is the need for a specific model that mimics the complex environment of human cardiomyocytes. Traditionally, animal models or transient heterologous expression systems are applied for electrophysiological investigations, each of these models having their limitations. The ability to create induced pluripotent stem cell-derived cardiomyocytes (iPSC-CMs), providing a source of human patient-specific cells, offers new opportunities in the field of cardiac disease modelling. Contemporary iPSC-CMs constitute the best possible in vitro model to study complex cardiac arrhythmia syndromes such as BrS. To date, thirteen reports on iPSC-CM models for BrS have been published and with this review we provide an overview of the current findings, with a focus on the electrophysiological parameters. We also discuss the methods that are used for cell derivation and data acquisition. In the end, we critically evaluate the knowledge gained by the use of these iPSC-CM models and discuss challenges and future perspectives for iPSC-CMs in the study of BrS and other arrhythmias.  相似文献   
2.
基于"遗传+变异"模式,提出继承式集成学习方法框架,它可以训练出四种不同形式的层叠分类器。除了基于"无遗传"模式的基本层叠分类器与基于"全部遗传"模式的嵌入式层叠分类器两种传统方法之外,还有基于"部分遗传+部分变异"模式的特征继承层叠分类器与弱分类器继承层叠分类器。虽然后两种层叠分类器都有一定的继承代价,但是其拟合性更好,可以更好地均衡收敛速度和扩展性能,其综合性能优于传统方法。基于RAB、GAB算法与LUT弱分类器的正面直立人脸检测实验结果表明了新的继承式集成学习方法的有效性。  相似文献   
3.
邵宇  晏婷 《包装工程》2022,43(10):378-385
目的 以现代设计的角度解析粉彩团花纹饰,探索其传承创新的可能性。在相关研究的基础上,丰富并启发传统纹饰研究,促进传统纹饰在当代设计中的多元融合,给当下设计提供传承与创新理论支持。方法 研究“一带一路”的传统文化艺术源头,以景德镇粉彩纹饰为切入点,用现代设计的法则解析粉彩团花纹饰的形成。对馆藏的典型粉彩团花纹饰举例说明,分析其纹饰在艺术性、功能性及思想性上的独特之处,为传统纹饰在当代设计的创新做出一些有意义的探索。结论 “一带一路”背景下研究中国传统纹饰艺术不仅有历史考古与文化收集的价值,也有审美的价值。通过设计角度的解构和分析粉彩团花纹饰的基本特征、文化意义、艺术审美和传承载体等,有利于进一步解读“一带一路”源头的中国传统文化艺术内涵,促进传统元素在当代艺术中的创意传承与创新发展。  相似文献   
4.
The discovery of novel intronic variants in the ABCA4 locus has contributed significantly to solving the missing heritability in Stargardt disease (STGD1). The increasing number of variants affecting pre-mRNA splicing makes ABCA4 a suitable candidate for antisense oligonucleotide (AON)-based splicing modulation therapies. In this study, AON-based splicing modulation was assessed for 15 recently described intronic variants (three near-exon and 12 deep-intronic variants). In total, 26 AONs were designed and tested in vitro using a midigene-based splice system. Overall, partial or complete splicing correction was observed for two variants causing exon elongation and all variants causing pseudoexon inclusion. Together, our results confirm the high potential of AONs for the development of future RNA therapies to correct splicing defects causing STGD1.  相似文献   
5.
Mutations in rhodopsin gene (RHO) are a frequent cause of retinitis pigmentosa (RP) and less often, congenital stationary night blindness (CSNB). Mutation p.G90D has previously been associated with CSNB based on the examination of one family. This study screened 60 patients. Out of these 60 patients, 32 were affected and a full characterization was conducted in 15 patients. We described the clinical characteristics of these 15 patients (12 male, median age 42 years, range 8–71) from three families including visual field (Campus Goldmann), fundus autofluorescence (FAF), optical coherence tomography (OCT) and electrophysiology. Phenotypes were classified into four categories: CSNB (N = 3, 20%) sector RP (N = 3, 20%), pericentral RP (N = 1, 6.7%) and classic RP (N = 8, 53.3% (8/15)). The phenotypes were not associated with family, sex or age (Kruskal–Wallis, p > 0.05), however, cystoid macular edema (CME) was observed only in one family. Among the subjects reporting nyctalopia, 69% (22/32) were male. The clinical characteristics of the largest p.G90D cohort so far showed a large frequency of progressive retinal degeneration with 53.3% developing RP, contrary to the previous report.  相似文献   
6.
As the number of genes associated with inherited disease continues to grow, researchers and practitioners in behavioral medicine will encounter complex psychological issues faced by individuals at risk for these diseases. A review of the literature concerning prenatal, carrier, and predictive genetic testing suggests that the severity of psychological risks posed by research-based genetic testing is not great. However, subgroups of individuals with particular psychological traits may be more vulnerable to adverse effects. Available data do not provide evidence that genetic testing promotes changes in health-related behaviors. Thus, although there may be less of a role for mental health professionals in the psychological counseling of genetic testing participants, there is a need for research and practice to facilitate health protective behaviors in response to genetic risk information. (PsycINFO Database Record (c) 2010 APA, all rights reserved)  相似文献   
7.
图像的有效分割或提取是图像处理与分析的重要内容,本文使用一种基于多层次特征的方法,针对噪声大,干扰多,光照不均,场景多变,目标形状多变这类图像,自原图像开始,得到各层次的特征,继承地利用低高层次特征逐步提取目标,而又可以回溯前面的原图像或低层次特征信息,继承地对所提取目标优化,实际目标与背景分离.实验表明,该算法可以正确高效地提取目标,有较高的鲁奉性和精度,对具有不同目标大小和信噪比的图像也能得到较好的提取效果.  相似文献   
8.
GIS环境下的最佳路径规划   总被引:7,自引:0,他引:7  
本文从沈阳市消防通信指挥系统的实际需要出 发,在GIS环境下求解从消防中队到火灾发生地的最佳路径.采用了离线搜索、建立最佳路 径库来解决实际应用中对实时性的要求,叙述了如何建立最佳路径的数学模型和利用遗传算 法通过样本路径来求解模型中的参数.  相似文献   
9.
PoerBuilder能发展到今天的水平,关键因素之一就是它拥有数据窗口(DataWindows)技术,数据窗口以其自动的用户/数据库接口为程序开发者省时省力,虽然PowerBuilder是一个面向对象的可视化的数据库前端开发平台,但对数据窗口对象它是不具有继承性的,为了程序开发的方便性和展示数据的统一性,数据窗口的重用在程序设计中是相当重要的,本文具体介绍了通过自定义用户对象的方式扩展数据窗口控件,来实现记数据窗口具有继承的功能。  相似文献   
10.
Myelodysplastic syndromes (MDS) arising in the context of inherited bone marrow failure syndromes (IBMFS) differ in terms of prognosis and treatment strategy compared to MDS occurring in the adult population without an inherited genetic predisposition. The main molecular pathways affected in IBMFS involve telomere maintenance, DNA repair, biogenesis of ribosomes, control of proliferation and others. The increased knowledge on the genes involved in MDS pathogenesis and the wider availability of molecular diagnostic assessment have led to an improvement in the detection of IBMFS genetic predisposition in MDS patients. A punctual recognition of these disorders implies a strict surveillance of the patient in order to detect early signs of progression and promptly offer allogeneic hematopoietic stem cell transplantation, which is the only curative treatment. Moreover, identifying an inherited mutation allows the screening and counseling of family members and directs the choice of donors in case of need for transplantation. Here we provide an overview of the most recent data on MDS with genetic predisposition highlighting the main steps of the diagnostic and therapeutic management. In order to highlight the pitfalls of detecting IBMFS in adults, we report the case of a 27-year-old man affected by MDS with an underlying telomeropathy.  相似文献   
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