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There is variability in the attainment of developmental milestones in the CDKL5 disorderIndividuals with the CDKL5 disorder have been described as having severely impaired development.
Research
Oesophageal atresia and tracheo-oesophageal fistula in Western Australia: Prevalence and trendsA recent international study reported a higher prevalence of oesophageal atresia with or without tracheo-oesophageal fistula (OA±TOF) in Western Australia (WA).
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Aberrant expression of aldehyde dehydrogenase 1A (ALDH1A) subfamily genes in acute lymphoblastic leukaemia is a common feature of T-lineage tumoursThe class 1A aldehyde dehydrogenase (ALDH1A) subfamily of genes encode enzymes that function at the apex of the retinoic acid (RA) signalling pathway.
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Big data in global health: Improving health in low- and middle-income countriesOver the last decade, a massive increase in data collection and analysis has occurred in many fields.
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Vehicle refuelling, use of domestic wood heaters and the risk of childhood brain tumours: Results from an Australian case-control studyThe aetiology of childhood brain tumours (CBT) is largely unknown.
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Cohort profile of the HealthNuts study: Population prevalence and environmental/genetic predictors of food allergyHealthNuts is a single-centre, multi-wave, population-based longitudinal study designed to assess prevalence, determinants, natural history and allergy...
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TagDust2: A generic method to extract reads from sequencing data.Arguably the most basic step in the analysis of next generation sequencing data (NGS) involves the extraction of mappable reads from the raw reads...
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Rett syndrome: Establishing a novel outcome measure for walking activity in an era of clinical trials for rare disordersRett syndrome is a pervasive neurological disorder with impaired gait as one criterion.
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Translating aboriginal genomics — four letters closing the gapEstablishing a genomic reference for Australian Aboriginal populations
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Global, regional, and national age-sex specific all-cause and cause-specific mortality for 240 causes of death, 1990-2013: a systematic analysis for the Global Burden of Disease Study 2013We estimated age-sex-specific all-cause mortality using the GBD 2010 methods with some refinements to improve accuracy applied to an updated database of vital registration, survey, and census data.