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Reference exome data for a Northern Brazilian populationExome sequencing is widely used in the diagnosis of rare genetic diseases and provides useful variant data for analysis of complex diseases. There is not always adequate population-specific reference data to assist in assigning a diagnostic variant to a specific clinical condition.
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Assessing the burden of laboratory-confirmed respiratory syncytial virus infection in a population cohort of Australian children through record linkageRespiratory syncytial virus is pervasive across multiple severity levels and diagnoses. Vaccines targeting children <3 months must be prioritized
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Tobacco smoking and mental disorders in Australian adolescentsThis study aimed to (1) examine the strength of the association between mental disorders/mental health problems, risk behaviours and tobacco smoking among Australian adolescents, (2) compare rates of tobacco smoking among Australian adolescents with major depressive disorder, attention-deficit/hyperactivity disorder and/or conduct disorder in 2013/14 vs 1998, and (3) identify the extent to which an association between tobacco smoking and mental health problems among adolescents can be attributed to non-mental health risk factors.
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Germline Elongator mutations in Sonic Hedgehog medulloblastomaGenetic predisposition to proteome instability may be a determinant in the pathogenesis of paediatric brain cancers
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Differences in stroke risk and cardiovascular mortality for Aboriginal and other Australian patients with atrial fibrillationStroke risk and cardiovascular mortality are markedly higher for Aboriginal than non-Aboriginal patients with atrial fibrillation, particularly for patients under 60
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Rheumatic heart disease in pregnancy: Profile of women admitted to a Western Australian tertiary obstetric hospitalThis retrospective study assessed maternal and perinatal outcomes for women with rheumatic heart disease admitted to the largest tertiary obstetric hospital
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Vitamin D receptor polymorphisms are associated with severity of wheezing illnesses and asthma exacerbations in childrenThese findings suggest that genetic variants at the VDR locus may play a role in acute wheeze/asthma severity in children
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The detection of bile acids in the lungs of paediatric cystic fibrosis patients is associated with altered inflammatory patternsOur work has identified a clinically relevant host-derived factor that may participate in shaping early events in the aetiology of CF respiratory disease
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A spatio-temporal analysis to identify the drivers of malaria transmission in BhutanHot spots and clusters of both species were isolated in the central southern part of Bhutan bordering India
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Volatiles or TIVA: Which is the standard of care for pediatric airway procedures? A pro-con discussionThis pro-con discussion examines both volatiles and TIVA, from the perspective of effectiveness, safety, cost, and environmental impact,