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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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Genome-wide Association Meta-analysis of Childhood and Adolescent Internalizing SymptomsTo investigate the genetic architecture of internalizing symptoms in childhood and adolescence.
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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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Complications associated with paediatric airway management during the COVID-19 pandemic: an international, multicentre, observational studyRespiratory adverse events in adults with COVID-19 undergoing general anaesthesia can be life-threatening. However, there remains a knowledge gap about respiratory adverse events in children with COVID-19. We created an international observational registry to collect airway management outcomes in children with COVID-19 who were having a general anaesthetic.
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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.