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Littérature scientifique sur le sujet « GNPAT »

Auteur : Grafiati

Publié le 9 mars 2023

Mis à jour le 31 juillet 2025

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Articles de revues sur le sujet "GNPAT"

Phillips, John D., Colin P. Farrell, Jessica Overbey, et al. "Identification of Polymorphic Gnpat As a Risk Factor for Porphyria Cutanea Tarda." Blood 126, no. 23 (2015): 3353. http://dx.doi.org/10.1182/blood.v126.23.3353.3353.

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Abstract Symptoms of porphyria cutanea tarda (PCT) resolve when iron stores are depleted by phlebotomy, and a sequence variant of HFE (C282Y) that increases iron absorption by reducing hepcidin expression is a risk factor for PCT. These observations suggest that PCT is an iron dependent disease and that factors that affect iron homeostasis influence the risk of developing the PCT. Recently, a polymorphic variant (D519G) of GNPAT was shown to be enriched in male patients with type I hereditary hemochromatosis (HFE C282Y homozygotes) who presented with a high iron phenotype [McLaren CE, et al. H

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McLaren, Gordon D., Mary J. Emond, V. Nathan Subramaniam, et al. "Exome Sequencing Identifies a GNPAT Variant Associated with Severe Iron Overload in HFE C282Y Homozygous Men with Extreme Phenotypes; Possible Role in Regulation of Hepcidin Expression." Blood 124, no. 21 (2014): 745. http://dx.doi.org/10.1182/blood.v124.21.745.745.

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Abstract Variability in the severity of iron overload among homozygotes for the HFE C282Y polymorphism is one of the major unsolved problems in our understanding of hereditary hemochromatosis (HH). We previously conducted exome sequencing of DNA from 35 HFE C282Y male homozygotes with either markedly increased iron stores (n=22; cases) or normal to mildly increased iron stores (n=13; controls) to identify rare and common causal variants associated with variability of disease expression in HH. The 35 participants, residents of the U.S., Canada, and Australia, reported little or no alcohol consu

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Azad, Abul Kalam, Abdullah Md Sheikh, Md Ahsanul Haque, et al. "Time-Dependent Analysis of Plasmalogens in the Hippocampus of an Alzheimer’s Disease Mouse Model: A Role of Ethanolamine Plasmalogen." Brain Sciences 11, no. 12 (2021): 1603. http://dx.doi.org/10.3390/brainsci11121603.

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Plasmalogens are alkenyl-acyl glycerophospholipids and decreased in post-mortem Alzheimer’s disease (AD) brains. The aim of this study is to investigate the time-dependent changes of plasmalogens in the hippocampus of an AD model mouse (J20). Plasmalogen levels at 3, 6, 9, 12 and 15 months were analyzed by liquid-chromatography-targeted-multiplexed-selected-reaction-monitoring-tandem-mass-spectrometry (LC-SRM/MS). Reactive oxygen species (ROS) levels were evaluated using dichlorofluorescein diacetate (DCF-DA). Plasmalogen synthesizing enzyme glycerone-phosphate O-acyltransferase (GNPAT) and la

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Tachon, Gaelle, Marie-Paule Roth, Fabienne Calcoen, Celine Besson-Fournier, Michael Bismuth, and Patricia Aguilar-Martinez. "Phenotypic Variability in Genetic Hemochromatosis: Study of Five SNPs in a Cohort of 342 Compound Heterozygotes for the HFE Cys282Tyr / His63Asp Mutations." Blood 126, no. 23 (2015): 3361. http://dx.doi.org/10.1182/blood.v126.23.3361.3361.

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Abstract The HFE p.Cys282Tyr (C282Y) mutation is the disease-causing defect in most cases of genetic hemochromatosis, but involvement of the p.His63Asp (H63D) variant in the pathogenesis of the illness is still a matter of debate. Some authors consider C282Y/H63D (YD) subjects as at risk of developing hemochromatosis, whereas others argue that iron overload, seen in some of these subjects, is related to external factors. As for the C282Y homozygotes, genetic modifiers might contribute to the phenotypic variability of hemochromatosis in YD subjects. This work was thus aimed at assessing the pos

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Dorninger, Fabian, Attila Kiss, Peter Rothauer, et al. "Overlapping and Distinct Features of Cardiac Pathology in Inherited Human and Murine Ether Lipid Deficiency." International Journal of Molecular Sciences 24, no. 3 (2023): 1884. http://dx.doi.org/10.3390/ijms24031884.

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Inherited deficiency in ether lipids, a subgroup of glycerophospholipids with unique biochemical and biophysical properties, evokes severe symptoms in humans resulting in a multi-organ syndrome. Mouse models with defects in ether lipid biosynthesis have widely been used to understand the pathophysiology of human disease and to study the roles of ether lipids in various cell types and tissues. However, little is known about the function of these lipids in cardiac tissue. Previous studies included case reports of cardiac defects in ether-lipid-deficient patients, but a systematic analysis of the

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Secondes, Eriza S., Daniel F. Wallace, Gautam Rishi, et al. "Increased Allele Frequency of GNPAT p.D519G in Compound HFE p.C282Y/p.H63D Heterozygotes with Elevated Serum Ferritin Levels." Blood 134, Supplement_1 (2019): 4807. http://dx.doi.org/10.1182/blood-2019-128240.

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In hemochromatosis, iron overload is due to increased intestinal iron absorption attributable to mutations in several genes involved in the regulation of iron absorption and metabolism. The most common type of hemochromatosis is caused by mutations in the HFE gene, and homozygosity for the HFE p.C282Y mutation is associated with a risk of iron overload. Approximately 1:200 people of Caucasian origin are homozygous for p.C282Y, but only a minority of p.C282Y homozygotes develop significant iron overload. This is attributed in part to the presence of putative genetic modifiers of iron absorption

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Valcárcel, Luis Vitores V., Raquel Ordoñez, Iñigo Apaolaza, et al. "Computational Systems Biology Models for the Identification of Metabolic Vulnerabilities in Multiple Myeloma." Blood 134, Supplement_1 (2019): 3084. http://dx.doi.org/10.1182/blood-2019-123970.

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Multiple myeloma (MM) is a hematological malignancy characterized by an abnormal accumulation of clonal plasma cells in the bone marrow. MM heterogeneity is associated to the presence of different genomic and transcriptomic profiles that have a clear impact on the prognosis of the disease. Metabolism has been deeply studied in cancer research, unveiling several vulnerabilities in different tumors. However, information regarding the role of metabolism in the pathogenesis of MM has not been explored in detail. Previous studies from our group using Systems Biology approach, explained the essentia

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McLaren, Christine E., Mary J. Emond, Pradyumna D. Phatak, et al. "Exome Sequencing Identifies Genes and Variant Alleles Associated With Severity Of Iron Overload In Hemochromatosis HFE C282Y Homozygotes." Blood 122, no. 21 (2013): 179. http://dx.doi.org/10.1182/blood.v122.21.179.179.

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Abstract Variability in the severity of iron overload among homozygotes for the HFE C282Y polymorphism is one of the major problems extant in our understanding of hereditary hemochromatosis (HH). We conducted exome sequencing of DNA from C282Y homozygotes with markedly increased iron stores (cases) and C282Y homozygotes with normal or mildly increased iron stores (controls) to identify rare and common causal variants associated with variability of disease expression in HH. Criteria for cases included serum ferritin >1000 µg/L at diagnosis, and (a) mobilized body iron >10 g by quantitativ

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Dorninger, Fabian, Anna Gundacker, Gerhard Zeitler, Daniela D. Pollak, and Johannes Berger. "Ether Lipid Deficiency in Mice Produces a Complex Behavioral Phenotype Mimicking Aspects of Human Psychiatric Disorders." International Journal of Molecular Sciences 20, no. 16 (2019): 3929. http://dx.doi.org/10.3390/ijms20163929.

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Ether lipids form a specialized subgroup of phospholipids that requires peroxisomes to be synthesized. We have previously detected that deficiency in these lipids leads to a severe disturbance of neurotransmitter homeostasis and release as well as behavioral abnormalities, such as hyperactivity, in a mouse model. Here, we focused on a more detailed examination of the behavioral phenotype of ether lipid-deficient mice (Gnpat KO) and describe a set of features related to human psychiatric disorders. Gnpat KO mice show strongly impaired social interaction as well as nestlet shredding and marble b

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Rametta, Raffaela, Paola Dongiovanni, Silvia Fargion, and Luca Valenti. "GNPAT p.D519G variant and iron metabolism during oral iron tolerance test." Hepatology 65, no. 1 (2016): 384–85. http://dx.doi.org/10.1002/hep.28745.

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Thèses sur le sujet "GNPAT"

GRENI, FEDERICO. "Variabilità fenotipica nell'emocromatosi: studio di due potenziali modificatori genetici in PCSK7 e GNPAT." Doctoral thesis, Università degli Studi di Milano-Bicocca, 2017. http://hdl.handle.net/10281/140994.

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Introduction and aim: Hereditary hemochromatosis (HH) is a genetic disease characterized by a progressive iron overload in different tissues. Homozygosity for the p.C282Y mutation is the most frequent genotype associated with the disease and it is directly responsible for an inappropriate production of hepcidin, the main regulator of iron homeostasis. Several evidences indicated that p.C282Y homozygous genotype has an incomplete penetrance due to the combined action of genetic and acquired modifier factors. Recently, the attention was focused on GNPAT rs11558492 and PCSK7 rs236918 single nucle

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Correia, Bárbara Catarina Gonçalves. "Determinig how membrane phospholipids regulate CNS myelination and myelin composition." Master's thesis, Universidade de Aveiro, 2017. http://hdl.handle.net/10773/22236.

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Mestrado em Biologia Molecular e Celular<br>Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive disorder characterized by a defect in peroxisomal enzymes responsible for the biosynthesis of plasmalogens. This leads to a deficiency of this type of glycerophospholipid, and patients present bone abnormalities, and mental retardation. This disorder can be caused by mutations in the GNPAT gene, which encodes the first enzyme necessary for plasmalogen synthesis. Some studies have shown that myelination in the peripheral and central nervous system is affected by the loss of plasmalo

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Bealmear, Stacey. "Fungus Gnat Integrated Pest Management." College of Agriculture and Life Sciences, University of Arizona (Tucson, AZ), 2010. http://hdl.handle.net/10150/144781.

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Biktchourina, Angelina. "Les verbes gnat' / gonjat' : sémantique, catégorie grammaticale, dérivation et phraséologie." Thesis, Lyon, 2017. http://www.theses.fr/2017LYSE3030/document.

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Dans cette thèse, nous avons étudié d’une manière structurée et détaillée la sémantique des verbes gnat’ et gonjat’. Pour cela, nous avons tout d’abord formalisé leur potentiel sémantique qui comprend les composants de leur valeur de base et ce qu’ils génèrent dans des situations nouvelles, dans des cotextes particuliers. Pour chaque valeur sémantique, nous avons présenté un schéma sémantique, un schéma actantiel en précisant les rôles sémantiques, la nature des actants et leur réalisation syntaxique, ainsi que des illustrations d’emploi dans des cotextes des plus représentatifs, des synonymes

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Mallinson, Helen. "The gnat and the vacuum : Robert Boyle and the history of air." Thesis, Birkbeck (University of London), 2009. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.581441.

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The thesis presents an intellectual history of air. It investigates a critical period when the concept of air changed from being an all pervasive 'element' within a predominantly Aristotelian cosmology, to an 'ocean', or a fluid and particulate body with mass and weight. The thesis is set in the context of the seventeenth-century revolution in science in England and is focused on the pneumatic work of Robert Boyle. The question behind the thesis is raised by a specific experiment published by Boyle in 1672 when he describes how he tried, and failed, to produce gnats in a flask that had been ev

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Nigh, Edward L. Jr, Christopher Sumner, and Thomas Svodoba. "An Evaluation of Biological Agents for Control of Citrus Nematode and Liohippelates Eye Gnat." College of Agriculture, University of Arizona (Tucson, AZ), 1997. http://hdl.handle.net/10150/220522.

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Biological agents have been employed in a series of experiments to evaluate their efftcacy,in control of the citrus nematode and Liohippelates eye gnat in the Yuma mesa area. Steinernema riobravis, an entomopathological nematode, considered climatically adapted to western Arizona temperatures, was selected from commercially available sources. Three field trials and a greenhouse study utilizing the nematodes at population ratés of one and two billion juveniles per acre were each unsuccessful in reducing the nematode or insect pest. Poor viability and survival were attributed to the negative res

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MONROY, MEJIA MANUEL RODRIGO. "Control de Fungus gnat durante el enraizamiento ex vitro de esquejes de planta de papa." Tesis de Licenciatura, Universidad Autónoma del Estado de México, 2019. http://hdl.handle.net/20.500.11799/99441.

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Con el objetivo de controlar Fungus gnat (Bradysia difformis) durante el enraizamiento ex vitro de esquejes de plantas de papa (Solanum tuberosum L.) dentro del área de enraizamiento de la empresa Agrícola Villarreal S.P.R. de R.L., dedicada a la producción de semilla de papa, se realizó el estudio en el siguiente orden, primero se inició con la colecta e identificación de ejemplares del insecto plaga, la cual fue identificada como: Bradysia difformis. En seguida se hicieron diferentes pruebas a diferentes concentraciones de enraizadores (Hormovit® y Raizal 400®) y sustratos como control

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Anas, Osama. "Interactions between Sclerotinia sclerotiorum (Lib.) de Bary, Bradysia coprophila Lintner (dark-winged fungus gnat) and mycoparasitic fungi." Thesis, McGill University, 1988. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=75777.

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Sclerotinia sclerotiorum is a pathogen of crops grown in the muck soil regions of Quebec. Soil baiting tests indicated that the sclerotia of S. sclerotiorum are attacked and destroyed by the larvae of Bradysia coprophila and mycoparasites. Sclerotia with rinds partially damaged by the larvae were found to be more susceptible to mycoparasitism by Trichoderma viride. Increasing the organic matter content and porosity of soils resulted in increased damage to sclerotia when larvae were present. Studies conducted to determine if larvae could be reared on diets of various fungi and plant tissue show

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Mochizuki, Ko. "Diversity of plants pollinated by fungus gnats and associated floral syndrome." Kyoto University, 2018. http://hdl.handle.net/2433/232293.

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Aleksenko, Ekaterina. "Small amines, associated proteins and stress responses in Arabidopsis." Electronic Thesis or Diss., université Paris-Saclay, 2024. http://www.theses.fr/2024UPASB076.

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En tant qu'organismes non mobiles, les plantes subissent une multitude de stress, comme des attaques de pathogènes et divers stress biotiques, des conditions de sol défavorables, des variations de température et de disponibilité en eau allant jusqu'à de forts stress hydriques. Elles ont développé des stratégies d'adaptation en utilisant des myriades de protéines et de métabolites, qui interagissent dans un réseau complexe de voies permettant aux plantes de réagir de manière appropriée à la nature et la sévérité des stress. Un de ces couples protéine-métabolite est l'acétyltransférase NATA1 et

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Livres sur le sujet "GNPAT"

Benedict, Kitty. Gnat. Creative Education, 1993.

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Jim, Minter, ed. Life on the gnat line. SpeakingDirect Publishing, 2010.

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Virgil. The gnat and other minor poems of Virgil. University of California Press, 2011.

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Stone, Christopher D. The gnat is older than man: Global environment andhuman agenda. Princeton University Press, 1993.

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Teachers, Ghana National Association of. GNAT, our diamond jubilee: 60 years, 1931-1991 : souvenir brochure. Ghana National Association of Teachers, 1994.

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Stone, Christopher D. The gnat is older than man: Global environment and human agenda. Princeton University Press, 1995.

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Ghana National Association of Teachers. Constitution and rules of the Ghana National Association of Teachers (GNAT). General Secretary, GNAT, 1987.

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Stone, Christopher D. The gnat is older than man: Global environment and human agenda. Princeton University Press, 1993.

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Rutstein, Nathan. From a gnat to an eagle: The story of Nathan Rutstein. Bahá'í Pub., 2008.

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Lombardo, Bruce. Chew toy of the gnat gods: Reflections on the wildlife of the southeast coast. Cherokee Pub. Co., 1998.

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Chapitres de livres sur le sujet "GNPAT"

Peck, Stewart B., Carol C. Mapes, Netta Dorchin, et al. "Gnat Bugs." In Encyclopedia of Entomology. Springer Netherlands, 2008. http://dx.doi.org/10.1007/978-1-4020-6359-6_1126.

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Plake, Conrad. "Gene Normalization with GNAT." In Encyclopedia of Systems Biology. Springer New York, 2013. http://dx.doi.org/10.1007/978-1-4419-9863-7_147.

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Erdmann, Michael. "GNAT Ada Database Development Environment." In Lecture Notes in Computer Science. Springer Berlin Heidelberg, 2002. http://dx.doi.org/10.1007/3-540-48046-3_26.

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Rybin, Sergey, Alfred Strohmeier, Vasiliy Fofanov, and Alexei Kuchumov. "ASIS-for-GNAT: A Report of Practical Experiences." In Reliable Software Technologies Ada-Europe 2000. Springer Berlin Heidelberg, 2000. http://dx.doi.org/10.1007/10722060_13.

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de la Puente, Juan A., José F. Ruiz, and Juan Zamorano. "An Open Ravenscar Real-Time Kernel for GNAT." In Reliable Software Technologies Ada-Europe 2000. Springer Berlin Heidelberg, 2000. http://dx.doi.org/10.1007/10722060_4.

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Rybin, Sergey, Alfred Strohmeier, and Eugene Zueff. "ASIS for GNAT: Goals, problems and implementation strategy." In Ada in Europe. Springer Berlin Heidelberg, 1996. http://dx.doi.org/10.1007/bfb0015489.

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Crawford, David L., Eric R. Craine, and Roy A. Tucker. "GNAT—A Global Network of Small Astronomical Telescopes." In Astrophysics and Space Science Library. Springer Netherlands, 2003. http://dx.doi.org/10.1007/978-94-010-0253-0_17.

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Schruba, Manfred. "Эзоповские сюжеты в русской народной картинке." In Biblioteca di Studi Slavistici. Firenze University Press, 2024. https://doi.org/10.36253/979-12-215-0585-6.30.

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Aesopian Subjects in Russian Popular Prints. The article analyses 18th century Russian popular prints that depict Aesopian motifs; the information on the textual and iconographic sources of the prints is summarized and clarified. The following motifs are considered: Why the Mother Taught Her Son Badly, The Fox and the Crane, The Fox and the Dolls, The Fox and the Grapes, The Old Man and Death; another topic is the iconography of the chapbook The Life of Aesop. For the first time, the print The Gnat and the Lion (which was not included in D.A. Rovinskii’s catalog) is introduced into scientific

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Miranda, Javier, and Edmond Schonberg. "Abstract Interface Types in GNAT: Conversions, Discriminants, and C++." In Reliable Software Technologies – Ada-Europe 2006. Springer Berlin Heidelberg, 2006. http://dx.doi.org/10.1007/11767077_15.

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Ruiz, José F. "GNAT Pro for On-board Mission-Critical Space Applications." In Reliable Software Technology – Ada-Europe 2005. Springer Berlin Heidelberg, 2005. http://dx.doi.org/10.1007/11499909_20.

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Actes de conférences sur le sujet "GNPAT"

O’Donoghue, Mike, Ron Garrett, and V. J. Datta. "Straining at a Gnat and Swallowing a Camel: Safety and Performance Issues with Two - Part Urethane Finish Coats." In Paint and Coatings Expo (PACE) 2006. SSPC, 2006. https://doi.org/10.5006/s2006-00056.

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Abstract An escalating amount of negative press on the tried-and-true polyurethane finish coats has arisen due to concerns with their free-isocyanate content. This paper explores performance aspects of polyurethanes with respect to their UV resistance properties, and safety issues associated with polyurethanes as a function of their precursor isocyanate molecules. A brief exploration is undertaken to ascertain whether or not the perceived assault on polyurethanes is justified when certain non-isocyanate replacement technologies deserve more careful scrutiny. Ironically, could it be that indust

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Kusumawardani, Sekar Ayuningtyas, Annisa Aulia Khairani, Anugrah Syawala, Inung Wijayanto, Rita Magdalena, and Ayu Tuty Utami. "Machine Learning Based ERP P300 Classification in EEG Signals from Online Game Player Performing GNAT Test." In 2024 7th International Seminar on Research of Information Technology and Intelligent Systems (ISRITI). IEEE, 2024. https://doi.org/10.1109/isriti64779.2024.10963621.

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Miranda, Javier, and Edmond Schonberg. "GNAT." In the 2004 annual ACM SIGAda international conference. ACM Press, 2004. http://dx.doi.org/10.1145/1032297.1032307.

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Gicca, Greg, and Ben Brosgol. "GNAT BoF." In the 2008 ACM annual international conference. ACM Press, 2008. http://dx.doi.org/10.1145/1454474.1454496.

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Schonberg, Edmond, and Bernard Banner. "The GNAT project." In the conference. ACM Press, 1994. http://dx.doi.org/10.1145/197694.197706.

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Dewar, Robert. "The GNAT compilation model." In the conference. ACM Press, 1994. http://dx.doi.org/10.1145/197694.197708.

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Kenner, Richard. "Integrating GNAT and GCC." In the conference. ACM Press, 1994. http://dx.doi.org/10.1145/197694.197710.

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de la Puente, Juan A., José F. Ruiz, and Jesús M. González-Barahona. "Real-time programming with GNAT." In the ninth international workshop. ACM Press, 1999. http://dx.doi.org/10.1145/329607.334742.

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Kermarrec, Yvon, Laurent Nana, and Laurent Pautet. "Implementing recovery blocks in GNAT." In the conference. ACM Press, 1995. http://dx.doi.org/10.1145/376503.376722.

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Crawford, David L., and Eric R. Craine. "Global network of astronomical telescopes: GNAT." In 1994 Symposium on Astronomical Telescopes & Instrumentation for the 21st Century, edited by David L. Crawford and Eric R. Craine. SPIE, 1994. http://dx.doi.org/10.1117/12.176714.

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Rapports d'organisations sur le sujet "GNPAT"

Peer, C. F. NATO SEA GNAT Program. Defense Technical Information Center, 1985. http://dx.doi.org/10.21236/ada153868.

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Gehrke, R. J., R. Aryaeinejad, K. D. Watts, D. R. Staples, and D. W. Akers. Application of PINS and GNAT to the assay of 55-gal containers of radioactive waste. Office of Scientific and Technical Information (OSTI), 1994. http://dx.doi.org/10.2172/10167553.

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Emma, Olsson. Kolinlagring med biokol : Att nyttja biokol och hydrokol som kolsänka i östra Mellansverige. Linköping University Electronic Press, 2025. https://doi.org/10.3384/9789180759496.

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Pest inventory of a field is a way of knowing when the thresholds for pest control is reached. It is of increasing interest to use machine learning to automate this process, however, many challenges arise with detection of small insects both in traps and on plants. This thesis investigates the prospects of developing an automatic warning system for notifying a user of when certain pests are detected in a trap. For this, sliding window with histogram of oriented gradients based support vector machine were implemented. Trap detection with neural network models and a check size function were test

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