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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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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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Upper Airway Cell Transcriptomics Identify a Major New Immunological Phenotype with Strong Clinical Correlates in Young Children with Acute WheezingAsthma exacerbations in children can be divided into IRF7hi versus IRF7lo phenotypes with associated differences in clinical phenotypes
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Bronchodilator responsiveness in children with asthma is not influenced by spacer device selectionSpacer device was not associated with clinically important differences in lung function following bronchodilator inhalation in children with asthma
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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
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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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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 integrated expression atlas of miRNAs and their promoters in human and mouseWe provided a broad atlas of miRNA expression and promoters in primary mammalian cells, establishing a foundation for detailed analysis of miRNA.
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The AREST CF experience in biobanking - More than just tissues, tubes and time.Research to further improve outcomes for people with CF is dependent upon well characterised, archived and accessible clinical specimens.