Search results for "Intellect"

showing 10 items of 642 documents

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.

2020

PurposeMarfanoid habitus (MH) combined with intellectual disability (ID) (MHID) is a clinically and genetically heterogeneous presentation. The combination of array CGH and targeted sequencing of genes responsible for Marfan or Lujan–Fryns syndrome explain no more than 20% of subjects.MethodsTo further decipher the genetic basis of MHID, we performed exome sequencing on a combination of trio-based (33 subjects) or single probands (31 subjects), of which 61 were sporadic.ResultsWe identified eight genes with de novo variants (DNVs) in at least two unrelated individuals (ARID1B, ATP1A1, DLG4, EHMT1, NFIX, NSD1, NUP205 and ZEB2). Using simulation models, we showed that five genes (DLG4, NFIX, …

ProbandMale[SDV]Life Sciences [q-bio]intellectual deficiencyMESH: NFI Transcription Factorschromatin remodelingMarfan SyndromeCraniofacial AbnormalitiesMESH: ChildIntellectual disabilityMESH: Craniofacial AbnormalitiesMESH: Mental Retardation X-LinkedExomeChildde novo variantsGenetics (clinical)Exome sequencingGeneticsMESH: ExomeMESH: Middle AgedbiologyMESH: Genetic Predisposition to DiseaseMiddle AgedNFIXMESH: Young AdultFemaleAdultMESH: MutationAdolescentChromatin remodelingMESH: Intellectual DisabilityMESH: Marfan SyndromeEHMT1Young AdultMESH: Whole Exome SequencingIntellectual DisabilityExome SequencingGeneticsmedicineHumansGenetic Predisposition to Diseasemarfanoid habitusGeneMESH: Neurodevelopmental DisordersMESH: AdolescentMESH: HumansGenetic heterogeneityMESH: Chromatin Assembly and DisassemblyMESH: Histone-Lysine N-MethyltransferaseMESH: AdultHistone-Lysine N-Methyltransferasemedicine.diseaseChromatin Assembly and DisassemblyMESH: MaleNFI Transcription FactorsNeurodevelopmental DisordersMutationbiology.proteinMental Retardation X-LinkedMESH: FemaleJournal of medical genetics
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A citar se aprende citando: experiencia didáctica en alfabetización académica

2017

Ante el problema relativamente extendido del plagio involuntario, nos plantemos la necesidad de fortalecer en el alumnado las competencias implicadas a la hora de insertar párrafos o ideas de otros autores en sus trabajos académicos. La presente experiencia didáctica es el resultado de varias fórmulas previas probadas con los estudiantes. Metodológicamente, para su análisis, nos valemos de un diseño de investigación acción, de manera que la observación y las respuestas de un cuestionario conducen a unas conclusiones que confirman el éxito de la experiencia. Esta se llevó a cabo con 212 estudiantes que inician su formación universitaria para ser maestros de Educación Primaria o Infantil. Par…

Process (engineering)Order (business)Honestymedia_common.quotation_subjectPerceptionPedagogySection (typography)Academic literacyAction researchIntellectual propertyPsychologymedia_commonEstudios λambda. Teoría y práctica de la didáctica en lengua y literatura.
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The Connectivity of Information for the Integrated Reporting

2013

The purpose of this chapter is to shed light on the guiding principle of connectivity of information which the Integrated Reporting Framework presents as a way of translating the integrated thinking into action. In doing so, the chapter moves from the analysis of the main reports that are a source of information for Integrated Reporting, defining them as “partial” reports because they represent only a part of the comprehensive value creation story. The ways in which these reports are aggregated and/or integrated during the process of construction of an Integrated Report have the potential to affect the level of connectivity of information. In addressing these issues, the chapter proposes th…

Process managementSettore SECS-P/07 - Economia AziendaleAction (philosophy)Computer scienceProcess (engineering)Corporate governanceIntegrated reporting connectivity reportCash flowIntegrated reportingAffect (psychology)Integrative thinkingIntellectual capital
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Scaling-up processes: Patents and commercial applications

2020

There is currently a great demand for fish and seafood products. However, their high consumption produces large quantities of by-products that can be an ecological problem. That is why it is necessary to look for alternatives to revalue these products and give them a second life, thus reducing their environmental impact. In this sense, several investigations have been carried out in laboratories around the world to extract compounds from marine processing industry for the final high added-value products. Some of these compounds are collagen, omega 3 fatty acids, protein concentrates or chitin/chitosan, among others. Nevertheless, one of the critical steps for obtaining these compounds at th…

Product (business)0303 health sciences03 medical and health sciences030309 nutrition & dieteticsProcess (engineering)Research studiesFish <Actinopterygii>LegislationEnvironmental impact assessmentBiochemical engineeringBusinessIntellectual property
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Innovative IC framework in the non profit sector

2012

The importance of intellectual capital in the non-profit sector generates the need to measure its role in the value creation process. The purpose of the paper is to study the application of intellectual capital within the non-profit sector, by turning attention to resources such as: knowledge, experience, and skills. Organizations, which are able to increase the knowledge of their staff and transform this knowledge into skills to improve services, can easily meet users’ needs and, thereby, become competitive. This contribution proposes to study how people’s knowledge can contribute to increasing social value, which is the non–profit organization’s aim. Furthermore, the goal is to de…

Professional servicesValue (ethics)Information Systems and ManagementKnowledge managementValue creationIC FrameworkValue Creationbusiness.industryProcess (engineering)Strategy and ManagementPerformanceNon-Profit SectorNon profitManagement Science and Operations ResearchManagement Information SystemsIntellectual capitalIntellectual CapitalConceptual frameworkOrder (exchange)businessStrategic ManagementInformation Systems
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Training young adults with intellectual disability to read critically on the internet.

2019

Background Young people with intellectual disability (ID) are becoming frequent Internet users, but they present difficulties selecting reliable Internet sources. Methods The present authors tested an instructional programme aimed at increasing skills to evaluate information from the Internet of 33 young adult students with intellectual disability enrolled in special needs education (19.4 years). The programme was composed of different web pages that provided conflicting views on a controversial topic. Students participated in small group discussions supported with Wh-question graphic organizers and contrasting cases during seven sessions. Results Differences between pre- and post-tests ind…

Program evaluationAdultMaleAdolescentmedia_common.quotation_subjectSpecial educationEducationYoung AdultIntellectual DisabilityIntellectual disabilityWeb pageDevelopmental and Educational PsychologymedicineHumansmedia_commonMedical educationInternetbusiness.industrymedicine.diseaseSelf-determinationReadingCritical readingEducation SpecialMedia literacyThe InternetFemalebusinessPsychologyProgram EvaluationJournal of applied research in intellectual disabilities : JARID
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Training adults and children with an autism spectrum disorder to be compliant with a clinical dental assessment using a TEACCH-based approach

2014

The specific neuropsychological and sensory profile found in persons with autism spectrum disorders complicate dental procedures and as a result of this, most are treated under general anesthesia or unnecessary sedation. The main goal of the present study was to evaluate the effectiveness of a short treatment and education of autistic and related communication-handicapped children-based intervention program (five sessions) to facilitate a 10-component oral assessment in children (n = 38, aged 4¿9 years) and adults (n = 34, aged 19¿41) with autism spectrum disorder (with or without associated intellectual disability). The assessment ranges from entering into the examination room to the evalu…

Program evaluationAdultMalemedicine.medical_specialtyYoung AdultBehavior TherapyIntervention (counseling)AnesthesiologyIntellectual disabilityDevelopmental and Educational PsychologyMedicineHumansAutistic DisorderChildDental Carebusiness.industryDental occlusionCommunicationNeuropsychologymedicine.diseaseAutism spectrum disorderChild PreschoolPhysical therapyAutismFemaleAutismebusinessClinical psychology
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The role of Intellectual Property Rights in the value capturing of crowdsourcing for innovation contests

2017

In this study, we investigate the role of IPR arrangements in crowdsourcing for innovation challenges. Integrating Property Rights Theory and the open innovation literature, we propose that specific challenge attributes affect the seekers organizations’ choice between alternative IPR arrangements and how this choice, in turn, affects the self-selection of external solvers into solving the challenge. We collected multi-source, interview data with open innovation directors and we built a unique data set of 729 awarded challenges broadcasted on InnoCentive platform from 2010 to 2016. Our findings contribute to the emerging literature on open innovation and crowdsourcing literature by bringing …

Property Rights TheoryCrowdsourcing for innovation Intellectual Property Rights Challenge performanceCrowdsourcing platform
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Les drones face aux enjeux de propriété intellectuelle

2022

Protection[SHS.DROIT] Humanities and Social Sciences/LawBrevetPropriété intellectuelleDrone
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Core research areas on addiction in Spain through the Web of Science bibliographic coupling analysis (2000-2013)

2014

En el presente estudio se han identificado los principales núcleos de la investigación española en el área de las adicciones a través del estudio de los enlaces bibliográficos, en las publicaciones bajo el epígrafe ‘Substance abuse’ de la Web of Science. Este procedimiento analítico determina la proximidad temático-intelectual de los documentos objeto de estudio a partir de la identificación de la bibliografía común compartida o citada simultáneamente. Se ha efectuado un análisis factorial y un análisis de redes para agrupar los documentos, representar gráficamente los núcleos de investigación existentes y analizar las interrelaciones entre los mismos. Se han identificado 30 núcleos de inve…

Psychiatry and Mental healthEstructura intelectualBibliometricsAdiccionesBibliometríaMedicine (miscellaneous)AddictionÁmbitos de investigaciónEnlaces bibliográficosBibliographic couplingResearch areasIntellectual structure
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