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Caregivers' Perceptions of Clinical Symptoms, Disease Management, and Quality of Life Impact in Cases of Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Cross-Sectional Online SurveyCyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is an ultrarare genetic condition causing developmental epileptic encephalopathy characterized by seizures and motor and intellectual disabilities. No disease-modifying therapies are available, and treatments focus mainly on symptom management to improve quality of life.
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Management and outcomes of children hospitalised with COVID-19 including incidental and nosocomial infections in Australia 2020–2023: A national surveillance studyManagement and outcomes of children hospitalised with acute SARS-CoV-2 infection may differ throughout the pandemic or with admission type (clinical COVID-19, incidental COVID-19 or nosocomial infection).
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Risk of cancer among children with birth defects: A novel approachThis novel approach aimed to prevent inflated hazard ratios arising from reverse causation, and allow identification of associations beyond those already...
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Multiple-breath washout as a lung function test in cystic fibrosis: A cystic fibrosis foundation workshop reportRecent technological advances in equipment design have produced gains in popularity for this test among cystic fibrosis (CF) researchers and clinicians...
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Promoter-level expression clustering identifies time development of transcriptional regulatory cascades initiated by ERBB receptors in breast cancer cellsThe analysis of CAGE (Cap Analysis of Gene Expression) time-courses has been applied to examine the dynamics of enhancer and promoter by sequentially...
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Prevalence of fetal alcohol syndrome in a population-based sample of children living in remote Australia: The Lililwan Project.Aboriginal leaders concerned about high rates of alcohol use in pregnancy invited researchers to determine the prevalence of fetal alcohol syndrome (FAS) and...
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The role of CCN family genes in haematological malignanciesHaematological malignancies, although a broad range of specific disease types, continue to show considerable overlap in classification, and patients are...
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Productive infection of human embryonic stem cell-derived nkx2.1+ respiratory progenitors with human rhinovirus.Our experiments provide proof of principle for the use of PSC-derived respiratory epithelial cells in the study of cell-virus interactions.
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Effect of antecedent moderate-intensity exercise on the glycemia-increasing effect of a 30-sec maximal sprint: a sex comparisonThis study investigated whether a prior bout of moderate-intensity exercise attenuates the glycemia-increasing effect of a maximal 30-sec sprint.
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Efficacy of human papillomavirus 16 and 18 vaccine against cervical cancer: Final randomized, double-blind PATRICIA trialWe report final event-driven analysis data on the immunogenicity and efficacy of the human papillomavirus 16 and 18 (HPV-16/18) AS04-adjuvanted vaccine in...