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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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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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Study protocol of a multicentre, randomised, controlled trial evaluating the effectiveness of probiotic and peanut oral immunotherapyPeanut allergy is the the most common cause of life-threatening food-induced anaphylaxis. There is currently no effective long-term treatment. There is a pressing need for definitive treatments that improve the quality of life and prevent fatalities. Allergen oral immunotherapy (OIT) is a promising approach, which is effective at inducing desensitisation; however, OIT has a limited ability to induce sustained unresponsiveness (SU).
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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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Variants associated with HHIP expression have sex-differential effects on lung functionLung function is highly heritable and differs between the sexes throughout life. However, little is known about sex-differential genetic effects on lung function. We aimed to conduct the first genome-wide genotype-by-sex interaction study on lung function to identify genetic effects that differ between males and females.
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Harmful drinking is associated with mental health conditions and other risk behaviours in Australian young peopleAlcohol use can have adverse health effects among children and adolescents
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The non-specific and sex-differential effects of vaccinesThe textbook view of vaccination is that it functions to induce immune memory of the specific pathogen components of the vaccine, leading to a quantitatively and qualitatively better response if the host is exposed to infection with the same pathogen
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Re-engaging an inactive cohort of young adults: Evaluating recruitment for the Kidskin Young Adult Myopia StudyWe evaluate our ability to recruit participants for the Kidskin Young Adult Myopia Study, a follow-up of the Kidskin Study