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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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Targeting cytokine- and therapy-induced PIM1 activation in preclinical models of T-cell acute lymphoblastic leukemia and lymphomaIL7 and glucocorticoids coordinately drive aberrant activation of PIM1 and suggests that T-ALL and T-LBL patients could benefit from PIM inhibition
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Chronic health conditions, mental health and the school: A narrative reviewSchool-based social risk processes in the lives of young people with chronic health conditions are likely to contribute to risk of psychological problems
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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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Putting ‘Justice’ in Recovery Capital: Yarning about Hopes and Futures with Young People in DetentionWe must celebrate success and hope through a process of mapping and building recovery capital in the justice context at an individual and institutional level
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Predicting outcome following mild traumatic brain injury: Protocol for the longitudinal, prospective, observational Concussion Recovery (CREST) cohort studyMild traumatic brain injury (mTBI) is a complex injury with heterogeneous physical, cognitive, emotional and functional outcomes. Many who sustain mTBI recover within 2 weeks of injury; however, approximately 10%-20% of individuals experience mTBI symptoms beyond this 'typical' recovery timeframe, known as persistent post-concussion symptoms (PPCS). Despite increasing interest in PPCS, uncertainty remains regarding its prevalence in community-based populations and the extent to which poor recovery may be identified using early predictive markers.
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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