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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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Evening and night work schedules and children's social and emotional well-beingThe findings show that both mothers’ and fathers’ evening and night work schedules are linked to an increase in children's externalizing and internalizing behavior
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An integrative analysis of non-coding regulatory DNA variations associated with autism spectrum disorderOverall, we found that the regulatory variants in autism spectrum disorder cases were enriched in ASD-risk genes and genes involved in fetal neurodevelopment
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MK2 inhibition induces p53-dependent senescence in glioblastoma cellsIn response to DNA damaging chemotherapy, targeting MK2 in p53-mutated cells produces a phenotype that is distinct from the p53-deficient phenotype
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Maternal HIV infection alters antimicrobial immunity in exposed and uninfected infantsImplementation of lifelong ART of all HIV-infected women has the potential to improve maternal determinants of protective immunity in the young infant
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Genome-wide association meta-analysis of single-nucleotide polymorphisms and symptomatic venous thromboembolism during therapy for ALL and lymphoma in caucasian childrenThe largest GWAS meta-analysis conducted to date associating SNPs to venous thromboembolism in children and adolescents treated on childhood ALL protocols
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Exploring Associations Between Playgroup Attendance and Early Childhood Development at School Entry in Australia: A Cross-Sectional Population-Level StudyChildren who attended playgroup had better development at school entry relative to those who had not attended playgroup
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General practitioners’ perceptions of their communication with Australian Aboriginal patients with acquired neurogenic communication disordersGPs report difficulty recognising acquired communication disorders and their lack of prioritising assessment and treatment of communication ability after brain injur
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Early-life exposure to electronic cigarettes: cause for concernThere are a multitude of ways that, with respect to early-life exposures and health, electronic nicotine delivery systems are a cause for concern
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A Qualitative Exploration of Electronic Image Sharing Among Young People: Navigating the Issues of Conformity, Trust, Intention, and ReputationThis research sought to explore the main factors affecting young people's image-sharing behaviors, particularly in the context of peer relationships and norms