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排序方式: 共有64条查询结果,搜索用时 31 毫秒
1.
Vasily Smirnov Olivier Grunewald Jean Muller Christina Zeitz Carolin D. Obermaier Aurore Devos Valrie Pelletier Batrice Bocquet Camille Andrieu Jean-Louis Bacquet Elodie Lebredonchel Saddek Mohand-Saïd Sabine Defoort-Dhellemmes Jos-Alain Sahel Hlne Dollfus Xavier Zanlonghi Isabelle Audo Isabelle Meunier Elise Boulanger-Scemama Claire-Marie Dhaenens 《International journal of molecular sciences》2021,22(12)
Variants of the TTLL5 gene, which encodes tubulin tyrosine ligase-like family member five, are a rare cause of cone dystrophy (COD) or cone-rod dystrophy (CORD). To date, only a few TTLL5 patients have been clinically and genetically described. In this study, we report five patients harbouring biallelic variants of TTLL5. Four adult patients presented either COD or CORD with onset in the late teenage years. The youngest patient had a phenotype of early onset severe retinal dystrophy (EOSRD). Genetic analysis was performed by targeted next generation sequencing of gene panels and assessment of copy number variants (CNV). We identified eight variants, of which six were novel, including two large multiexon deletions in patients with COD or CORD, while the EOSRD patient harboured the novel homozygous p.(Trp640*) variant and three distinct USH2A variants, which might explain the observed rod involvement. Our study highlights the role of TTLL5 in COD/CORD and the importance of large deletions. These findings suggest that COD or CORD patients lacking variants in known genes may harbour CNVs to be discovered in TTLL5, previously undetected by classical sequencing methods. In addition, variable phenotypes in TTLL5-associated patients might be due to the presence of additional gene defects. 相似文献
2.
Ana Espinosa Javier Reguera Alberto Curcio lvaro Muoz‐Noval Christian Kuttner Aurore Van de Walle Luis M. Liz‐Marzn Claire Wilhelm 《Small (Weinheim an der Bergstrasse, Germany)》2020,16(11)
Progress of thermal tumor therapies and their translation into clinical practice are limited by insufficient nanoparticle concentration to release therapeutic heating at the tumor site after systemic administration. Herein, the use of Janus magneto‐plasmonic nanoparticles, made of gold nanostars and iron oxide nanospheres, as efficient therapeutic nanoheaters whose on‐site delivery can be improved by magnetic targeting, is proposed. Single and combined magneto‐ and photo‐thermal heating properties of Janus nanoparticles render them as compelling heating elements, depending on the nanoparticle dose, magnetic lobe size, and milieu conditions. In cancer cells, a much more effective effect is observed for photothermia compared to magnetic hyperthermia, while combination of the two modalities into a magneto‐photothermal treatment results in a synergistic cytotoxic effect in vitro. The high potential of the Janus nanoparticles for magnetic guiding confirms them to be excellent nanostructures for in vivo magnetically enhanced photothermal therapy, leading to efficient tumor growth inhibition. 相似文献
3.
Spieser Hugo Jardin Alexandre Deganello Davide Gethin David Bras Julien Denneulin Aurore 《Journal of Materials Science》2021,56(21):12524-12538
Journal of Materials Science - TEMPO (2,2,6,6-tetramethylpiperidine-N-oxyl)-oxidized cellulose nanofibrils (T-CNF) and silver nanowires (Ag NWs) were formulated as active inks. Their rheological... 相似文献
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Blandine Georges Yves Brostaux Hugues Claessens Aurore Degr Leo Huylenbroeck Philippe Lejeune Herv Pigay Adrien Michez 《河流研究与利用》2020,36(6):960-973
Many studies focus on stream water temperature (WT) because it is considered a key ecological factor. However, few of them have investigated the use of WT data from water level monitoring networks, which often measure WT as ancillary data. Our study was conducted in southern Belgium at a high temporal resolution with continuous data recorded at intervals of 10 min between 2012 and 2016 and large spatial scale greater than 16,000 km2. This study aimed to assess whether a regional water level network (140 stations) is reliable for continuous WT monitoring based on a Bland–Altman analysis with WT collected through a European monitoring network (Water Framework Directive). This study also investigates whether WT data acquired by water level stations can be used to perform both state‐of‐the‐art visualization of thermal regimes and spatio‐temporal queries for specific ecological monitoring. We found that the water level stations were reliable tools in recording continuous WT in the streams of the study area. The temperature difference between the two WT monitoring networks was ?0.57°C on average. Our positive results promote the use of WT from water level stations in order to globally characterize the thermal regime of streams as well as to provide spatial or temporal information on this regime at high frequencies. As an example, our data showed the effectiveness for brown trout (Salmo trutta fario L.) in spatializing thermal risk areas related to the thermal requirement of this fish species; in 2015, 19% of stations located in brown trout fish zone recorded temperatures above 25°C. 相似文献
7.
In this work, we examine the use of nonwoven (NW) as heat barrier to protect a metallic substrate. Carbtex fibers consisting in a thermoplastic core inside an oxidized outer shell (polyacrylonitrile or PAN fibers) are selected to make the NW. Measuring temperature profiles in a heat radiator test; it is revealed that Carbtex NW is an efficient heat barrier. A macroscopic model is then developed to simulate heat transfer in NW (considered as a porous medium) used as a protective heat barrier on aluminum plate. The model is validated comparing experimental results obtained by the heat radiator test and predicted values. The efficiency of NW layer is simulated varying different parameters characteristic of the NW (porosity and heat conductivity) and of the design (thickness of the layer). It is revealed to get good efficiency of the NW heat barrier that heat conductivity of the fibers is crucial to get superior performance as well as high porosity (higher than 0.5) associated with a reasonable thickness of NW (5–7 mm). © 2008 Wiley Periodicals, Inc. J Appl Polym Sci, 2008 相似文献
8.
Gaëtan Mary Aurore Van de Walle Jose Efrain Perez Tomofumi Ukai Toru Maekawa Nathalie Luciani Claire Wilhelm 《Advanced functional materials》2020,30(25)
Pluripotent stem cells are central tools to many regenerative medicine strategies due to their ability to differentiate toward the three embryonic germ layers. One challenge remains in providing control over their differentiation into specific lineages, such as cardiac commitment. Here, the possibility of directing cardiomyogenesis of embryonic stem cells using a microfabricated magnetic pattern is demonstrated. The stem cells are labeled with magnetic nanoparticles, aggregated into embryoid bodies (EBs) onto the pattern, and stimulated with a local magnetic force applied via the pattern. The EBs formed on this magnetic device experience the same differentiation profile as the ones created by the common hanging drop approach, while it allows high‐throughput production of hundreds of EBs. Further on/off cyclic magnetic force stimulation mediated by the same device is sufficient to enhance cardiomyogenesis in a way that almost all EBs develop spontaneous beating, confirmed by the overexpression of α‐actin and troponin proteins, and by the upregulation (twofold to fivefold) of genes involved in mesoderm differentiation (Nkx2.5, Gata4, and Gata6), and more specifically cardiac lineage (Tnnt2, Myh6, and Myl‐2). Beyond holding high application‐level potential, this work confirms that physical forces, and specifically on/off dynamic ones can be sufficient to govern cell function. 相似文献
9.
Aurore Risacher Pierre Chapelle Alain Jardy Jessica Escaffre Henri Poisson 《Journal of Materials Processing Technology》2013,213(2):291-299
This paper describes measurements of the voltage and temperature profiles in a vacuum arc remelting (VAR) crucible during a series of melts of a 40CrMoV13-9 steel alloy electrode, which were used to obtain information about the current flows in the furnace. The results derived included the current leaving the crucible above the ingot crown, the current flowing between the crucible and the crown, the current transferred between the crucible and the ingot lateral surface and the current flowing through the ingot bottom. It was established that the crown (observed to be 5–10 cm high) played a predominant role in the current distribution, as the crown carried more than 50% of the furnace current. A small but non negligible fraction of the furnace current (about 10%), which represents the lower limit of the side-arcing current, was found to leave the crucible above the crown. The effect of the arc gap length on the current distribution was examined, but no general trend was clearly identified. Finally, a summary of the results reported in this study and those previously obtained in the literature is presented. Significant differences regarding the estimated amount of the side arcing current were noted that did not seem to be directly related to the changes in the remelted materials or melting conditions. It was pointed out that a detailed understanding of the current partition in the furnace requires additional experimental and theoretical study to clarify the path of the current flowing through the ingot crown. 相似文献
10.
Christelle Porcherot Sylvain Delplanque Aurore Planchais Nadine Gaudreau Riccardo Accolla Isabelle Cayeux 《Food quality and preference》2012,23(2):125-133
The aim of this study was to investigate the influence of food odorant names on feelings through the verbal measurement of emotions. Two experiments were conducted. In the first experiment, 88 participants were asked to report their feelings about 17 food odorants, randomly presented in six sensory booth sessions and in three conditions. In two conditions, an actual odorant was presented blind or in association with its name. In a third condition, only the odorant name was presented. Feeling measurements were conducted by using the ScentMoveTM questionnaire (Porcherot et al., 2010). Participants also rated the familiarity, acceptability, and typicality of the odorants. Results indicated that the odorant name information may influence the reported feelings, as already observed by several authors for traditional liking assessments, with differences among feeling dimensions and odorants. The odorants could be gathered into four groups, with either matches between expected feelings from the odorant name and experienced feelings from the smell evaluation for eight odorants (e.g., caramel, citrus, and mint), or discrepancies between expected and experience feelings for nine odorants, and with no effect of the odorant name information (e.g., strawberry, vanilla), few, or high positive effects of the odorant name information (e.g., cola, chicken). Typicality scores did not differ between the different groups, showing that higher odorant typicality would not systematically result in a match between expectation and experience, or in a positive effect of the name information. It was therefore investigated in a second experiment if the group constitution could be explained by the odorant recognition scores that were measured from a free recognition task for the 17 odorants presented in the blind condition. The results of the two experiments are discussed in relation to dissimilarities between smell and food experiences and to lack of context. 相似文献