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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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Interventions to Improve Child Physical Activity in the Early Childhood Education and Care Setting: An Umbrella ReviewEarly childhood education and care (ECEC) services are a key setting to support improvements in the physical activity of young children. This umbrella review gathered and synthesised systematic review evidence of the effectiveness of interventions in the ECEC setting on the physical activity levels of children aged 0–6.
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Longitudinal audit of assessment and pharmaceutical intervention for cardiovascular risk in the Australasian Diabetes Data NetworkTim Liz Jones Davis MBBS DCH FRACP MD MBBS FRACP PhD Co-head, Diabetes and Obesity Research Co-director of Children’s Diabetes Centre Co-head,
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Quantification of Helicobacter pylori and its oncoproteins in the oral cavity: A cross-sectional studyTo identify Helicobacter pylori and related oncogenic and virulent proteins in patients with gingivitis, periodontitis, oral cancer and gastric cancer.
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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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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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Preferred health outcome states following treatment for pulmonary exacerbations of cystic fibrosisTreatment for pulmonary exacerbations of cystic fibrosis (CF) can produce a range of positive and negative outcomes. Understanding which of these outcomes are achievable and desirable to people affected by disease is critical to agreeing to goals of therapy and determining endpoints for trials.
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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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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.