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CRISPR single base editing, neuronal disease modelling and functional genomics for genetic variant analysis: pipeline validation using Kleefstra syndrome EHMT1 haploinsufficiencyOver 400 million people worldwide are living with a rare disease. Next Generation Sequencing identifies potential disease causative genetic variants. However, many are identified as variants of uncertain significance and require functional laboratory validation to determine pathogenicity, and this creates major diagnostic delays.
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Sleep Disordered Breathing and Recurrent Tonsillitis Are Associated With Polymicrobial Bacterial Biofilm Infections Suggesting a Role for Anti-Biofilm TherapiesThe underlying pathogenesis of pediatric obstructive sleep disordered breathing (SDB) and recurrent tonsillitis (RT) are poorly understood but need to be elucidated to develop less invasive treatment and prevention strategies.
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Strengths and challenging behaviors in children and adolescents with Prader-Willi syndrome: Two sides to the coinPrader-Willi Syndrome (PWS) is a rare genetic disorder associated with emotional/behavioral disturbances. These difficulties are well documented in the literature, but the positive attributes of these individuals are not described.
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Anxiety Trajectories in Adolescents and the Impact of Social Support and Peer VictimizationThis paper examines whether adolescents can be reliably categorized into subgroups based on their patterns of anxiety levels over time and whether low levels of social support from parents, peers, and their school, and high levels of peer victimization, predict a pattern of increasing anxiety.
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Fetal alcohol spectrum disorders screening tools: A systematic reviewScreening facilitates the early identification of fetal alcohol spectrum disorder (FASD) and prevalence estimation of FASD for timely prevention, diagnostic, and management planning.
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Overarching Evaluation of the National Support for Child and Youth Mental Health Program- Final ReportThe National Support for Child and Youth Mental Health Program (the Program) aims to improve mental health outcomes for children and young people, commencing with the early years and going through to adolescence, by providing targeted grants for workforce and education activities that will build capabilities aligned to the Program objectives.
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Variation in excess all-cause mortality by age, sex, and province during the first wave of the COVID-19 pandemic in ItalyAlthough previous evidence suggests that the infection fatality rate from COVID-19 varies by age and sex, and that transmission intensity varies geographically within countries, no study has yet explored the age-sex-space distribution of excess mortality associated with the COVID pandemic.
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The Mental Health Implications of Domestic Violence During COVID-19Citation: Newnham EA, Chen Y, Gibbs L, Dzidic PL, Guragain B, Balsari S, et al. The Mental Health Implications of Domestic Violence During COVID-19.
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Exacerbation of chronic cigarette-smoke induced lung disease by rhinovirus in miceA significant proportion of chronic obstructive pulmonary disease exacerbations are strongly associated with rhinovirus infection (HRV). In this study, we combined long-term cigarette smoke exposure with HRV infection in a mouse model.
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In Vitro primary human airway epithelial whole exhaust exposureThe method outlined in this article is a customization of the whole exhaust exposure method generated by Mullins et al. (2016) using reprogrammed primary human airway epithelial cells as described by Martinovich et al. (2017). It has been used successfully to generate recently published data (Landwehr et al. 2021). The goal was to generate an exhaust exposure model where exhaust is collected from a modern engine, real-world exhaust concentrations are used and relevant tissues exposed to assess the effects of multiple biodiesel exposures.