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Airway epithelial repair in health and disease: Orchestrator or simply a player?This review attempts to highlight migration-specific and cell-extracellular matrix (ECM) aspects of repair used by epithelial cells
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A variant at 9p21.3 functionally implicates CDKN2B in paediatric B-cell precursor acute lymphoblastic leukaemia aetiologyDiscover and replicate a locus indexed by rs77728904 at 9p21.3 associated with BCP-ALL susceptibility
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Early mortality from external causes in Aboriginal mothers: A retrospective cohort studyWhilst a disproportionate number of Aboriginal women die from potentially preventable causes, no research has investigated mortality in Aboriginal mothers.
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X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genesSystematic sequencing of all X-chromosomal genes in patients with genetic evidence for X-chromosome locus involvement may resolve 58% of Fragile X-negative cases
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International research utilizing the Early Development Instrument (EDI) as a measure of early child development: Introduction to the Special IssueThis opening paper presents the background to this Special Issue devoted to new international research using Early Development Instrument
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Infective respiratory syncytial virus is present in human cord blood samples and most prevalent during winter monthsHuman respiratory syncytial virus (RSV) remains the most common cause of severe lower respiratory tract disease amongst infants, and continues to cause annual epidemics of respiratory disease every winter worldwide.
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The collective impact of rare diseases in Western Australia: An estimate using a population-based cohortThis cohort study provides new evidence of a disparity between the proportion of the population with rare diseases and their combined health-system costs
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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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Early lung surveillance of cystic fibrosis: what have we learnt?Newborn screening (NBS) for cystic fibrosis (CF) provides an opportunity to commence management and therapeutic interventions significantly earlier
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Prevalence of microcephaly in an Australian population-based birth defects register, 1980-2015We identified a high proportion of cases without known cause, highlighting the need for clinicians to carefully investigate all possibilities, including emerging infections.