Search results for "Intellect"
showing 10 items of 642 documents
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder
2022
De novo variants in QRICH1 (Glutamine-rich protein 1) has recently been reported in 11 individuals with intellectual disability. The function of QRICH1 is largely unknown but it is likely to play a key role in the unfolded response of endoplasmic reticulum (ER) stress through transcriptional control of proteostasis. In this study, we present 27 additional individuals and delineate the clinical and molecular spectrum of the individuals (n=38) with QRICH1 variants. The main clinical features were mild to moderate developmental delay/intellectual disability (71%), non-specific facial dysmorphism (92%) and hypotonia (39%). Additional findings included poor weight gain (29%), short stature (29%)…
Theory of Mind Profiles in Children With Autism Spectrum Disorder: Adaptive/Social Skills and Pragmatic Competence
2020
Theory of Mind (ToM) is one of the most relevant concepts in the field of social cognition, particularly in the case of Autism Spectrum Disorders (ASD). Literature showing that individuals with ASD display deficits in ToM is extensive and robust. However, some related issues deserve more research: the heterogeneous profile of ToM abilities in children with ASD and the association between different levels of ToM development and social, pragmatic, and adaptive behaviors in everyday life. The first objective of this study was to identify profiles of children with ASD without intellectual disability (ID), based on explicit and applied ToM knowledge, and compare these profiles with a group of ch…
Transcriptomic metaanalyses of autistic brains reveals shared gene expression and biological pathway abnormalities with cancer
2019
Este es el artículo que se ha publicado de forma definitiva en: https://molecularautism.biomedcentral.com/articles/10.1186/s13229-019-0262-8 En este artículo también participa Joan Climent, Vera Pancaldi, Lourdes Fañanás, Celso Arango, Mara Parellada, Anaïs Baudot, Daniel Vogt, John L. Rubenstein, Alfonso Valencia y Rafael Tabarés-Seisdedos. Background: Epidemiological and clinical evidence points to cancer as a comorbidity in people with autism spectrum disorders (ASD). A significant overlap of genes and biological processes between both diseases has also been reported. Methods: Here, for the first time, we compared the gene expression profiles of ASD frontal cortex tissues and 22 cancer t…
Tout ce que les avocats ont toujours voulu savoir sur le plagiat..
2013
International audience
In light of the ends. Copyright hysteresis and private copy exception after the British Academy of Songwriters, Composers and Authors (BASCA) and oth…
2015
In British Academy of Songwriters, Composers and Authors (BASCA) and others v Secretary of State for Business, Innovation and Skills, the High Court of Justice in matter of private copy exception provides the twofold prime opportunity to shed light on the state of the art of copyright in the UK and to flesh out the idea of 'legal hysteresis’. I support the reintroduction of the private copy exception, possibly in a less narrow fashion, and I explain the reasons why I am confident that my expectations will be fulfilled.
Verso la rappresentazione e valutazione dello sviluppo delle aziende : i limiti dell'informativa economico-finanziaria e il contributo di alcuni appr…
2009
Firms are dynamic entities in continuous change. This dynamism can lead to an improvement or worsening of the firm. Only in the first situation we can say that a firm is developing. The notion of firm's development does not have in literature an univocal interpretation and for this reason the first aim of the article is to illustrate an interpretation for a better understanding of this notion, which remains incomplete without appropriate instruments for the representation and evaluation of firm's development. The main purpose of this article is to reflect upon the manner to represent and to value this complex phenomenon. The analysis highlights, on the one hand, the limits of the financial …
Comparaison Balanced Scorecard - Navigator
2008
Cet article a pour objectif de décrire et de comparer deux modèles de tableaux de bord stratégique : le modèle Anglo-Saxon, connu sous le nom de Balanced Scorecard et le modèle Scandinave, dont l'application la plus connue a été développé au sein de l'entreprise Skandia sous le nom de Navigator.
LES TABLEAUX DE BORD DU CAPITAL INTELLECTUEL
2009
Cet article a pour objectif de présenter et d'analyser les tableaux de bord du capital intellectuel qui constituent un modèle alternatif au Balanced Scorecard. Dans une première partie, nous retraçons les origines et les fondements des tableaux de bord du capital intellectuel. Puis dans une seconde partie, nous décrivons les différentes façons d'appréhender le capital intellectuel pour dans une troisième partie analyser des exemples de tableaux de bord du capital intellectuel.
Behavioral phenotype and autism spectrum disorders in Cornelia de Lange syndrome
2015
Cornelia de Lange syndrome (CdLS) is a congenital disorder characterized by distinctive facial features, growth retardation, limb abnormalities, intellectual disability, and behavioral problems. Cornelia de Lange syndrome is associated with abnormalities on chromosomes 5, 10 and X. Heterozygous point mutations in three genes (<em>NIPBL</em>, <em>SMC3</em> and <em>SMC1A</em>), are responsible for approximately 50-60% of CdLS cases. CdLS is characterized by autistic features, notably excessive repetitive behaviors and expressive language deficits. The prevalence of autism spectrum disorder (ASD) symptomatology is comparatively high in CdLS. However, the pro…
Intellectual capital reporting: A knowledge tool to coordinate a group of regional non-profit organisations
2017
Whilst many organizations worldwide have stopped disclosing Intellectual Capital (IC), to the best of our knowledge, the only longstanding NPO still measuring, managing and reporting its IC is a large Italian non-profit organization (NPO), ANPAS Piemonte. The main aim of the article is thus to investigate the reasons why ANPAS Piemonte continues to deal with IC, to examine the determinants of this choice, the costs and the benefits management gets from IC measurement, management and reporting. In other words, the paper aims to explore the intellectual capital (IC) reporting process from an internal, managerial point of view. The paper employ a case study methodology to address its aim, and …