Search results for "Distinction"

showing 10 items of 43 documents

Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations

2004

Contains fulltext : 48815.pdf (Publisher’s version ) (Closed access) Opitz syndrome (OS; MIM 145410 and MIM 300000) is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal (LTE) abnormalities, imperforate anus, developmental delay, and cardiac defects. The X-linked form (XLOS) is caused by mutations in the MID1 gene, which encodes a microtubule-associated RBCC protein. In this study, phenotypic manifestations of patients with and without MID1 mutations were compared to determine genotype-phenotype correlations. We detected 10 novel mutations, 5 in familial cases, 2 in sporadic cases, and 3 in families for whom it …

Malemedicine.medical_specialtyUbiquitin-Protein LigasesBiologymedicine.disease_causeGastroenterologyG/BBB SYNDROMEFAMILIESGenomic disorders and inherited multi-system disorders [IGMD 3]Genotype-phenotype distinctionInternal medicineGeneticsmedicineHumansHypertelorismGeneGenetics (clinical)GeneticsFamily HealthX-linked Opitz syndromeMutationMID1Nuclear ProteinsGenetic Diseases X-LinkedExonsOpitz G/BBB Syndromemedicine.diseasePhenotypeGENEPedigreeSmith-Lemli-Opitz SyndromePhenotypeGenetic defects of metabolism [UMCN 5.1]HypospadiasMutationMicrotubule ProteinsFemalephenotypic variabilityXP22medicine.symptomImperforate anusFunctional Neurogenomics [DCN 2]BBBTranscription FactorsAmerican Journal of Medical Genetics. Part A
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The analytic-synthetic distinction

1995

This chapter tries to throw light on the first of Godel’s two main theses in the philosophy of mathematics, namely that mathematical propositions are analytic. To this end, an overview of similar conceptions is presented first in which the views by Frege, Russell Wittgenstein, Carnap and Quine are expounded. Then Godel’s view is analyzed, both in his publications and in the manuscripts which appear in this edition. The presentation of Carnap’s detailed attempt to define analyticity in his The Logical Syntax of Language (1934) may seem rather long in comparison with the ones devoted to the other authors, but it should be recalled that the Godel manuscripts appearing here were a direct philos…

Philosophy of mathematicsPresentationPhilosophymedia_common.quotation_subjectGödelQuinecomputerAnalytic–synthetic distinctioncomputer.programming_languageEpistemologymedia_common
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A48 COLITIS FAVORS THE EXPANSION OF BACTERIA THAT ACTIVATE PAR2 AMPLIFYING INFLAMMATORY RESPONSE

2020

Abstract Background Proteolytic imbalance has been described in patients with inflammatory bowel disease (IBD) and in different models of experimental colitis. Although the proteases reported to be increased are mainly from the host, the role of bacterial proteases has recently emerged, as they can promote inflammation, in part, through activation of Protease-activated receptors (PARs). PAR2 deficient mice are resistant to inflammation and PAR2 activation affects multiple aspects of the tissue response to injury. However, PAR2 communicates with other receptors such as toll-like and other PARs, which are important in multiple immune signaling pathways. Thus, the direct implication of PAR2 in…

Poster of DistinctionbiologyChemistryInflammatory responseSpleenInflammationmedicine.diseasebiology.organism_classificationInflammatory bowel diseaseCell biologymedicine.anatomical_structurePeptide Hydrolasesmedicinemedicine.symptomSignal transductionColitisBacteria
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La perte du pouvoir de suspension préalable à une sanction

1999

International audience

Suspension de fonctions[SHS.DROIT]Humanities and Social Sciences/Law[SHS.DROIT] Humanities and Social Sciences/LawINTERET DU SERVICEDistinction avec la suspension temporaireDISCIPLINE DES AGENTS PUBLICSComputingMilieux_MISCELLANEOUS
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Orígenes de las movilizaciones #primaveravalenciana. Un análisis de los actores sociales más influyentes en Twitter

2018

Twitter publics have become consolidated research objects. The main aim of this article is to make a contribution to this research current by analysing the social conditions that gave shape to the hashtag #primaveravalenciana. In order to do this, this study shall follow an analysis of the early tweets giving shape to this phenomenon. This approach shall stablish a participant's typology, identifying the most influent actors and pursuying a content analysis of relevant micro-messages which pushed forward the hashtag's viral expansion in the next few days. Against theories which tend to minimise the social distinction of digital actors, data analysis shows that the hashtag's origins were in …

TypologySocial conditionRedes sociales; Twitter; Movimientos sociales; Protestas estudiantilesContent analysisPhenomenonMedia studiesHomogeneous groupGeneral Social SciencesSociologyPublicsSocial Media; Twitter; Social Movements; Student ProtestsSocial distinctionAthenea Digital. Revista de pensamiento e investigación social
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Distinguished Scientist Award under the Chinese Academy of Science President’s international Fellowship Initiative 2020

2019

[SDE] Environmental SciencesdistinctionsClarivate analyticsHighly Cited Researchers
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Classé parmi les 6000 chercheurs mondiaux les plus influents selon Highly Cited Researchers de Clarivate analytics (Microbiology), dont environ 170 F…

2019

[SDE] Environmental SciencesdistinctionsClarivate analyticsHighly Cited Researchers
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Prix de l’innovation scientifique de la fondation Xavier-Bernard de l'Académie d'Agriculture de France. 23 septembre 2020 (La « biodiversité des sols…

2020

La « biodiversité des sols » mise à l’honneur par l’Académie d’agriculture de France et la fondation Xavier-Bernard Lionel RANJARD (directeur de recherches INRAE) expert en écologie des sols, recevra le 23 septembre 2020 à l’Académie d’agriculture de France le prix de l’innovation scientifique de la fondation Xavier-Bernard. Ce prix est destiné à récompenser, dans l’esprit novateur de son fondateur, les auteurs des meilleurs travaux de recherche pouvant contribuer au développement durable de l’agriculture en répondant aux attentes de la société dans le domaine de l’alimentation, de l’économie et de l’environnement.Ce prix récompense ici l’ensemble de ces recherche menées depuis plus de 20 a…

[SDE] Environmental Sciencesdistinctionsprix de l’innovation scientifique de la fondation Xavier-BernardAcadémie d'Agriculure
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De la distinction de l'arbitrage et des institutions voisines

2009

International audience

[SHS.DROIT]Humanities and Social Sciences/Law[SHS.DROIT] Humanities and Social Sciences/LawARBITRAGEInstitution voisineGénéralitésDistinctionComputingMilieux_MISCELLANEOUS
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De la distinction entre l'expertise et l'arbitrage

2009

International audience; (Paris, 1re ch. C, 4 déc. 2008, n° 07/5437, Sté Messagerie Oyonnaxienne c/ Cie Aviva Assurances, inédit)

[SHS.DROIT]Humanities and Social Sciences/Law[SHS.DROIT] Humanities and Social Sciences/LawARBITRAGEInstitution voisineGénéralitésDistinctionExpertise irrévocable
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