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Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoeaWe report an 8 year old girl who was diagnosed with THES by the Undiagnosed Disease Program-WA with compound heterozygous pathogenic variants in SKIV2L
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Mapping the global prevalence, incidence, and mortality of Plasmodium falciparum, 2000-17: a spatial and temporal modelling studyHigh-resolution maps of P falciparum are a resource for informing global policy and malaria control planning, programme implementation, and monitoring initiatives
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Epigenome-wide meta-analysis of DNA methylation and childhood asthmaNovel loci differentially methylated in newborns represent potential biomarkers of risk of asthma by school age
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Caregiver’s attitudes, beliefs, and experiences for influenza vaccination in Australian children with medical comorbiditiesInfluenza vaccination recommendation by children’s hospital physicians and previous vaccine receipt in hospital was associated with vaccine uptake
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Single Parasternal-Long-Axis-View-Sweep Screening Echocardiographic Protocol to Detect Rheumatic Heart Disease: A Prospective Study of Diagnostic AccuracyEchocardiographic screening in school-aged children can detect rheumatic heart disease (RHD) prior to the manifestation of symptoms of heart failure.
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The high prevalence and impact of rheumatic heart disease in pregnancy in First Nations populations in a high-income setting: a prospective cohort studyRheumatic heart disease in pregnancy persists in First Nations people in Australia and New Zealand and is associated with major cardiac and perinatal morbidity
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High burden of infectious disease and antibiotic use in early life in Australian Aboriginal communitiesEarly life infections drive high antibiotic prescribing rates in remote Aboriginal communities
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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastomaWe present a curated panel of 12 readily-usable, cell lines representing the spectrum of molecular subtypes of IDH-wildtype glioblastoma
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Dynamic molecular changes during the first week of human life follow a robust developmental trajectorySystems biology and innovative data integration can provide fresh insights into the molecular ontogeny of the first week of life
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Concurrent developmental course of sleep problems and emotional/behavioral problems in childhood and adolescence as reflected by the dysregulation profileFindings provide evidence for a strong association in the development of sleep problems and difficulties of dysregulation with emotion, cognition, and aggression