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ISPAD Clinical Practice Consensus Guidelines 2018: Assessment and management of hypoglycemia in children and adolescents with diabetesHypoglycemia is the commonest acute complication of type 1 diabetes
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Reducing harms related to alcohol use in pregnancy – policy and practice recommendationsThis issues brief outlines opportunities for change to support reduction of harms related to alcohol use in pregnancy
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Toxoplasma Modulates Signature Pathways of Human Epilepsy, Neurodegeneration & Cancer.disease-deconvolution" identified associations between the parasite-brain interactions and epilepsy, movement disorders, Alzheimer's disease, and cancer.
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Probabilistic linkage of national immunisation and state-based health records for a cohort of 1.9 million births to evaluate Australia’s childhood immunisation programTo describe the process for assembling a linked study that will enable the conduct of population-based studies related to immunisation and immunisation policy.
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Contemporary survival endpoints: An international diffuse intrinsic pontine glioma registry studyThis study defines PFS and OS, and is the first describe post-progression survival in a large cohort of children with DIPG.
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Does alcohol outlet density differ by area-level disadvantage in metropolitan Perth?This ecological study examines the distribution of liquor licences in Perth, Australia, and whether discrepancies in the distribution of retail land-uses could account for a socio-economic gradient.
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Gestational age and school achievement: A population studyWe examined gestational age from preterm to post-term against a national minimum standard for academic achievement in population data.
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A brief history of MECP2 duplication syndrome: 20-years of clinical understandingMECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder caused by a duplication of the methyl-CpG-binding protein 2 (MECP2) gene-a gene in which loss-of-function mutations lead to Rett syndrome (RTT). MDS has an estimated live birth prevalence in males of 1/150,000.
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Circulating Epithelial Cell Cytokines Are Associated With Early-Onset Atopic DermatitisDebbie Susan Palmer Prescott BSc BND PhD MBBS BMedSci PhD FRACP Head, Nutrition in Early Life Honorary Research Fellow debbie.palmer@uwa.edu.au
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Functional validation of variants of unknown significance using CRISPR gene editing and transcriptomics: A Kleefstra syndrome case studyThere are an estimated > 400 million people living with a rare disease globally, with genetic variants the cause of approximately 80% of cases. Next Generation Sequencing (NGS) rapidly identifies genetic variants however they are often of unknown significance.