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showing 10 items of 29275 documents

Variants of human CLDN9 cause mild to profound hearing loss

2021

Hereditary deafness is clinically and genetically heterogeneous. We investigated deafness segregating as a recessive trait in two families. Audiological examinations revealed an asymmetric mild to profound hearing loss with childhood or adolescent onset. Exome sequencing of probands identified a homozygous c.475G>A;p.(Glu159Lys) variant of CLDN9 (NM_020982.4) in one family and a homozygous c.370_372dupATC;p.(Ile124dup) CLDN9 variant in an affected individual of a second family. Claudin 9 (CLDN9) is an integral membrane protein and constituent of epithelial bicellular tight junctions that form semi-permeable, paracellular barriers between inner ear perilymphatic and endolymphatic compartment…

tight junctionsAdolescentclaudin 9In situ hybridizationDeafnessBiologyArticleFrameshift mutationMiceotorhinolaryngologic diseasesGeneticsmedicineAnimalsHumansPakistanInner earNonsyndromic deafnessChildClaudinGenetics (clinical)Exome sequencingnonsyndromic deafnessTight junctionGenetic heterogeneityclaudin 9; exome sequencing; Morocco; nonsyndromic deafness; Pakistan; tight junctionsHomozygotemedicine.diseaseMolecular biologyPedigreeMoroccomedicine.anatomical_structureClaudinsMutationexome sequencingHeLa CellsHuman Mutation
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Photobleaching and Recovery Kinetics of a Palette of Carbon Nanodots Probed by In Situ Optical Spectroscopy

2022

Carbon dots (CDs) are a family of fluorescent nanoparticles displaying a wide range of interesting properties, which make them attractive for potential applications in different fields like bioimaging, photocatalysis, and many others. However, despite many years of dedicated studies, wide variations exist in the literature concerning the reported photostability of CDs, and even the photoluminescence mechanism is still unclear. Furthermore, an increasing number of recent studies have highlighted the photobleaching (PB) of CDs under intense UV or visible light beams. PB phenomena need to be fully addressed to optimize practical uses of CDs and can also provide information on the fundamental m…

time-resolved dynamicsfluorescent nanoparticlesdiffusionSettore FIS/01 - Fisica SperimentaleGeneral Materials Sciencecarbon nanodotsphotoresistancephotobleaching
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Peri-Implant Behavior of Tissue Level Dental Implants with a Convergent Neck

2021

Introduction: The aim of this retrospective study was to analyze the radiographic peri-implant bone loss of bone level implants and tissue level implants with a convergent neck in screw-retained single crowns and in screw-retained fixed partial prostheses, after two years of functional loading. Materials and methods: The sample was divided into two groups according to their type: Group I: supracrestal implants with convergent transmucosal neck

tissue levelHealth Toxicology and MutagenesisRadiographymedicine.medical_treatmentPeriAlveolar Bone LossDentistryMandibleProsthesisArticleBones.Dental implants.03 medical and health sciences0302 clinical medicinebone lossMaxillamedicineHumansHuesos.Dental Restoration FailureOdontología restauradora.Bone levelRetrospective StudiesDental Implantsbusiness.industryfixed partial prosthesisPrótesis dentales.Dientes - Implantes.RPublic Health Environmental and Occupational HealthMandibleTissue levelbone level030206 dentistryDentures.Treatment Outcomesingle crownMaxillaMedicineImplantbusinessDentistry Operative.Follow-Up Studies030215 immunologyInternational Journal of Environmental Research and Public Health
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Unlocking mixed oxides with unprecedented stoichiometries from heterometallic metalorganic frameworks for the catalytic hydrogenation of CO 2

2021

[EN] Their complex surface chemistry and high oxygen lattice mobilities place mixed-metal oxides among the most important families of materials. Modulation of stoichiometry in mixed-metal oxides has been shown to be a very powerful tool for tuning optical and catalytic properties. However, accessing different stoichiometries is not always synthetically possible. Here, we show that the thermal decomposition of the recently reported metal-organic framework MUV-101(Fe, Ti) results in the formation of carbon-supported titanomaghemite nanoparticles with an unprecedented Fe/Ti ratio close to 2, not achievable by soft-chemistry routes. The resulting titanomaghemite phase displays outstanding catal…

titanomaghemiteMaterials scienceRWGSNanoparticle02 engineering and technology010402 general chemistry01 natural sciencesReverse water-gas shiftWater-gas shift reactionMixed oxidesCatalysisTitanomaghemitePhase (matter)[CHIM.CRIS]Chemical Sciences/CristallographyPhysical and Theoretical Chemistrymixed oxidesOrganic ChemistryThermal decomposition[CHIM.MATE]Chemical Sciences/Material chemistry[CHIM.CATA]Chemical Sciences/Catalysis021001 nanoscience & nanotechnology0104 chemical sciencesChemical engineeringChemistry (miscellaneous)reverse water-gas shiftMetal-organic framework0210 nano-technologySelectivityMOF-mediated synthesisStoichiometry
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Measuring syntactic complexity in learner Finnish

2020

In the study of complexity, accuracy and fluency (CAF), syntactic complexity can be measured by a multitude of measures. Traditionally, the measures are quantitative and they use production units such as words, clauses, T -units, and sentences. Despite the vast number o f measures available, many studies have used only one or two of them, or parallel ones tapping the same component of complexity. The present study explores syntactic complexity using seven frequently used quantitative complexity measures to gauge different facets of complexity in written learner Finnish. The data of the study consist of texts written by adult and adolescent language learners, and they cover proficiency level…

toinen kieli050101 languages & linguistics02 engineering and technologycomputer.software_genreArticleTask (project management)Language learnerFluencyGauge (instrument)Component (UML)0202 electrical engineering electronic engineering information engineering0501 psychology and cognitive scienceskielen oppiminenlearner Finnishbusiness.industry05 social sciencesSyntactic complexitykielitaitoGeneral MedicineL2 writing020201 artificial intelligence & image processingArtificial intelligencebusinessPsychologycomplexitycomputerNatural language processing
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Resolving tensions caused by high-stakes assessment in an L2 classroom through mediation

2022

The Finnish classroom assessment culture is considered that of assessment for learning. The situation in upper-secondary schools is different, however. While teachers in Finland appreciate assessment supporting learning, they feel unable to merge it with assessment of learning outcomes, and favour the latter due to the Matriculation Examination (ME; e.g. Leontjev, submitted), a high-stakes exam growingly used in university admission. Learners, likewise, expect teachers to prepare them for the ME (Lakkala & Ilomäki, 2013), the results of which play a significant role in their further studies. The tension between assessment for learning and exam preparation is, therefore, often resolved i…

toinen kielikieltenopetusmatriculation examinationlukioGeneral MedicineL2luokkatyöskentelyoppimistuloksetsosiaalinen vuorovaikutusArticleylioppilastutkintokieltenopettajatsociocultural theoryoppilasarviointimediationpower of testsopettaja-oppilassuhde
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Measurement of the top quark charge in pp collisions at sqrt(s) = 7 TeV with the ATLAS detector

2013

A measurement of the top quark electric charge is carried out in the ATLAS experiment at the Large Hadron Collider using 2.05 fb[superscript −1] of data at a centre-of-mass energy of 7 TeV. In units of the elementary electric charge, the top quark charge is determined to be 0.64 ± 0.02 (stat.) ± 0.08 (syst.) from the charges of the top quark decay products in single lepton t[¯ over t] candidate events. This excludes models that propose a heavy quark of electric charge −4/3, instead of the Standard Model top quark, with a significance of more than 8σ.

top physics; hadron-hadron scatteringNuclear and High Energy PhysicsTop quarkParticle physics530 PhysicsAtlas detectorCiências Naturais::Ciências Físicastop physicsHigh Energy Physics::Lattice:Ciências Físicas [Ciências Naturais]FOS: Physical sciences7. Clean energy01 natural sciences530High Energy Physics - ExperimentNuclear physicsHigh Energy Physics - Experiment (hep-ex)Naturvetenskap0103 physical sciences[PHYS.HEXP]Physics [physics]/High Energy Physics - Experiment [hep-ex]High Energy Physics010306 general physicsQCCiencias Exactashadron-hadron scatteringtop quarkPhysicsLarge Hadron ColliderHadron-Hadron ScatteringScience & TechnologyATLAS detector010308 nuclear & particles physicsAtlas (topology)Settore FIS/01 - Fisica SperimentaleHigh Energy Physics::PhenomenologyFísicaATLASTop physicsHADRON-HADRON COLLISIONSproton-proton collisionsHigh Energy Physics::ExperimentLHCHadron-Hadron Scattering; Top physicsNatural SciencesParticle Physics - ExperimentLepton
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New is not always costly: evidence from online processing of topic and contrast in Japanese.

2013

Two visual ERP experiments were conducted to investigate topic and contrast assigned by various cues such as discourse context, sentential position and marker during referential processing in Japanese. Experiment 1 showed that there was no N400-difference for new vs. given noun phrases (NPs) when the new NP was expected (contrastively focused) based on its preceding context and sentential position. Experiment 2 further revealed that the N400 for new NPs can be modulated by the NP’s contrastive meaning (exhausitivity) induced from the marker. Both experiments also showed that new NPs engendered an increased Late Positivity. The reduced N400 for new vs. given supports an expectation-based lin…

topicComputer sciencelcsh:BF1-990referential processingContext (language use)updatingRepresentation (arts)computer.software_genrePsychologyN400Original Research ArticleLate PositivityGeneral Psychologybusiness.industryOnline processingexhaustivityContrast (statistics)contrastN400Noun phraselcsh:Psychologysentential positionJapaneseArtificial intelligencebusinesscomputerERPDiscourse markerNatural language processingexpectationMeaning (linguistics)Frontiers in psychology
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Polyphenols Epigallocatechin Gallate and Resveratrol, and Polyphenol-Functionalized Nanoparticles Prevent Enterovirus Infection through Clustering an…

2021

To efficiently lower virus infectivity and combat virus epidemics or pandemics, it is important to discover broadly acting antivirals. Here, we investigated two naturally occurring polyphenols, Epigallocatechin gallate (EGCG) and Resveratrol (RES), and polyphenol-functionalized nanoparticles for their antiviral efficacy. Concentrations in the low micromolar range permanently inhibited the infectivity of high doses of enteroviruses (107 PFU/mL). Sucrose gradient separation of radiolabeled viruses, dynamic light scattering, transmission electron microscopic imaging and an in-house developed real-time fluorescence assay revealed that polyphenols prevented infection mainly through clustering of…

torjuntapolyfenolitviruksetvirusesfood and beveragesstabilointi (kemia)epidemiatantiviral efficacyinfektiotArticlefunctionalized gold nanoparticlesenterovirusespandemiatstabilizationRS1-441enteroviruksetPharmacy and materia medicalääkehoitonanohiukkaset3111 Biomedicinepolyphenols
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Impact of Gamma Radiation on Dynamic R

2019

GaN high-electron-mobility transistors (HEMTs) are promising next-generation devices in the power electronics field which can coexist with silicon semiconductors, mainly in some radiation-intensive environments, such as power space converters, where high frequencies and voltages are also needed. Its wide band gap (WBG), large breakdown electric field, and thermal stability improve actual silicon performances. However, at the moment, GaN HEMT technology suffers from some reliability issues, one of the more relevant of which is the dynamic on-state resistance (RON_dyn) regarding power switching converter applications. In this study, we focused on the drain-to-source on-resistance (RDSON) char…

total ionizing dose (TID)high-electron-mobility transistor (HEMT)assurance testingradiation effectsgallium nitride (GaN)radiation hardnessArticleMaterials (Basel, Switzerland)
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