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Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndromeIn 2014, germline signal transducer and activator of transcription (STAT) 3 gain-of-function (GOF) mutations were first described to cause a novel multisystem disease of early-onset lymphoproliferation and autoimmunity.
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A comparison of parent-reported and self-reported psychosocial function scores of the PedsQL for children with non-severe burnQuality of life of paediatric patients after burn injury is often assessed through parents who may score differently to their child. Non-severe burns are the most common type of burn injury in Western Australia, however, despite low severity and high survival rates, they can cause long term physical and psychosocial problems which need to be detected early in order to provide patients with optimal holistic care.
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Tonsils at Telethon: developing a standardised collection of tonsil photographs for group A streptococcal (GAS) researchGroup A streptococcus (GAS) infections, such as pharyngitis and impetigo, can lead to rheumatic fever and rheumatic heart disease (RHD). Australian Aboriginal and Torres Strait Islander populations experience high rates of RHD and GAS skin infection, yet rates of GAS pharyngitis are unclear.
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Developmental regulation of type 1 and type 3 interferon production and risk for infant infections and asthma developmentType 1 and 3 interferon response capacity appears strongly developmentally constrained at birth
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Effectiveness of seasonal trivalent influenza vaccination against hospital-attended acute respiratory infections in pregnant womenInfluenza vaccination during pregnancy was associated with significantly fewer hospital attendances for ARI in pregnant women
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Functional abilities in children and adults with the CDKL5 disorderAlthough abilities were markedly impaired for the majority with the CDKL5 disorder, some females and a few males had better functional abilities
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Asbestos exposure and histological subtype of malignant mesotheliomaPathological malignant mesothelioma subtype is associated with the type of asbestos or the attributes of asbestos exposure
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Analytical bias in the measurement of serum 25-hydroxyVitamin D concentrations impairs assessment of Vitamin D statusThis publication demonstrated considerable differences in the measurement of 25-hydroxyvitamin D concentrations compared with a certified laboratory, even...
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Incidence of malignant mesothelioma in Aboriginal people in Western AustraliaThe Wittenoom mining operation has had a disproportionate effect on malignant mesothelioma incidence in the local Aboriginal population
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Psychosocial characteristics and predictors of health-care use in families of young children with cystic fibrosis in Western AustraliaThis study aimed to identify psychosocial predictors in cystic fibrosis that may inform intervention strategies.