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Research
Severe congenital cutis laxa: Identification of novel homozygous LOX gene variants in two familiesWe report three babies from two families with a severe lethal form of congenital cutis laxa. All three had redundant and doughy-textured skin and two siblings from one family had facial dysmorphism. Echocardiograms showed thickened and poorly contractile hearts, arterial dilatation and tortuosity. Post-mortem examination in two of the babies further revealed widespread ectasia and tortuosity of medium and large sized arteries, myocardial hypertrophy, rib and skull fractures.
WAACHS was the largest and most comprehensive survey ever undertaken into the health, wellbeing & development of WA Aboriginal and Torres Strait Islander kids
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Risk of Mortality into Adulthood According to Gestational Age at BirthTo quantify the independent risks of neonatal, postneonatal, 1 to 5 and 6 to 30 year mortality by gestational age and investigate changes in survival over time.
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Investigating falls in adults with intellectual disability living in community settings and their experiences of post-fall care servicesThis study will determine the rate of falls among older adults with ID living in community based settings, which will assist to identify the extent of this problem
Parental Experience of Information and Education Processes Following Diagnosis of Their Infant With Cystic Fibrosis Via Newborn Screening. Abstract
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Hearing loss in Australian First Nations children at 6-monthly assessments from age 12 to 36 months: Secondary outcomes from randomised controlled trials of novel pneumococcal conjugate vaccine schedulesIn Australian remote communities, First Nations children with otitis media (OM)-related hearing loss are disproportionately at risk of developmental delay and poor school performance, compared to those with normal hearing. Our objective was to compare OM-related hearing loss in children randomised to one of 2 pneumococcal conjugate vaccine (PCV) formulations.
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Priority-setting in youth with chronic conditionsAmy Keely Liz Leanne Bec Finlay-Jones Bebbington Davis Fried Sampson BPsych(Hons), MPsych(Clinical), MHealthEcon, PhD (Clin Psych) MClinPsych/PhD
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Mind The DistanceYael Penelope Keely Bep Amy Helen Perry Strauss Bebbington Uink Finlay-Jones Milroy BPsych (Hons) MPsych (Clin) PhD BA, MPH, PhD MClinPsych/PhD
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Bacillus licheniformis in geogenic dust induces inflammation in respiratory epitheliumWe have previously demonstrated that mice exposed to geogenic dust PM10 experienced an exacerbation of inflammatory responses to influenza A virus.