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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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Leading excellence through equity: Social emotional learning for a Fair GoAustralia likes to call itself the land of the "Fair Go". But what does a Fair Go mean for students from backgrounds of deep disadvantage? The UN Sustainable Development Goals for 2030 aim to ensure "inclusive and equitable quality education and [to promote] lifelong learning opportunities for all" (United Nations, 2015).
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Defining the fetal origin of MLL-AF4 infant leukemia highlights specific fatty acid requirementsInfant MLL-AF4-driven acute lymphoblastic leukemia (ALL) is a devastating disease with dismal prognosis. A lack of understanding of the unique biology of this disease, particularly its prenatal origin, has hindered improvement of survival. We perform multiple RNA sequencing experiments on fetal, neonatal, and adult hematopoietic stem and progenitor cells from human and mouse.
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Reflections on How Tinnitus Impacts the Lives of Children and AdolescentsThe aim of this study was to generate a conceptual framework describing which aspects of children and adolescents' lives are affected by chronic tinnitus.
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Duration of amoxicillin-clavulanate for protracted bacterial bronchitis in children (DACS): a multi-centre, double blind, randomised controlled trialProtracted bacterial bronchitis (PBB) is a leading cause of chronic wet cough in children. The current standard treatment in European and American guidelines is 2 weeks of antibiotics, but the optimal duration of therapy is unknown. We describe the first randomised controlled trial to assess the duration of antibiotic treatment in children with chronic wet cough and suspected PBB.
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Achieving universal electrification of rural healthcare facilities in sub-Saharan Africa with decentralized renewable energy technologiesA potential response to the COVID-19 pandemic in sub-Saharan Africa (SSA) with long-term benefits is to provide electricity for medical equipment in rural health centers and communities. This study identifies a large gap in the electrification of healthcare facilities in SSA, and it shows that decentralized photovoltaic systems can offer a clean, reliable, quick, and cost-effective solution.
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People with Cerebral Palsy and Their Family's Preferences about Genomics ResearchThe goal of this study was to understand individuals with cerebral palsy (CP) and their family's attitudes and preferences to genomic research, including international data sharing and biobanking.
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Microcephaly in Australian infants: A retrospective auditThe aim of this study was to describe clinical characteristics, outcomes and causes of microcephaly in children whose condition was identified within the first year of life.
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Case Report: Neonatal Varicella Acquired From Maternal ZosterThe incidence of neonatal varicella has decreased dramatically since the introduction of the varicella vaccination. Although the varicella zoster virus is often associated with a mild infection, it may cause severe morbidity and mortality, particularly in the neonatal period and immunocompromised hosts. We report a case of neonatal varicella acquired from maternal zoster in a mother on biological immunosuppressive therapy.