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Research
Oxidative stress in early cystic fibrosis lung disease is exacerbated by airway glutathione deficiencyare oxidative stress or glutathione status associated with brochiectasis and whether glutathione deficiency is inherently linked to CF or from oxidative stress
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Airway IRF7hi versus IRF7lo molecular response patterns determine clinical phenotypes in children with acute wheezingWe employed a systems biology approach to delineate upper airway gene network patterns underlying asthma exacerbation phenotypes in children.
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Investigating associations between birth order and autism diagnostic phenotypesBirth order effects have been linked to variability in intelligence, educational attainment and sexual orientation. First- and later-born children have been linked to an increased likelihood of an Autism Spectrum Disorder (ASD) diagnosis, with a smaller body of evidence implicating decreases in cognitive functioning with increased birth order. The present study investigated the potential association between birth order and ASD diagnostic phenotypes in a large and representative population sample.
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Predicting Long-Term Survival Without Major Disability for Infants Born PretermApgar score, birth weight, sex, socioeconomic status, and maternal ethnicity, in addition to gestational age, have pronounced impacts on disability-free survival.
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A Novel Missense Mutation Affecting the N-terminal Domain of SAP Protein in X-linked Lymphoproliferative DiseaseWe have revealed a novel SH2D1A gene mutation in a patient with XLP resulting in fulminant refractory EBV-driven HLH, which is a recognized severe complication
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Inflammatory bowel diseases: interrelationships between dietary vitamin D, exposure to UV radiation and the fecal microbiomeThis review explores the interaction of vitamin D, and ultraviolet radiation, with the intestinal innate and adaptive immune systems
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Diagnosis, Genetics, and Therapy of Short Stature in Children: A Growth Hormone Research Society International PerspectiveThe Growth Hormone Research Society (GRS) convened a Workshop in March 2019 to evaluate the diagnosis and therapy of short stature in children
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Use of remote monitoring with continuous glucose monitoring in young children with Type 1 diabetes: the parents’ perspectiveParents of primary school children reported that using remote monitoring and continuous glucose monitoring was a mostly beneficial experience
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QuantSeq. 3′ Sequencing combined with Salmon provides a fast, reliable approach for high throughput RNA expression analysisQuantSeq, coupled with a fast quantification method such as Salmon, should provide a viable alternative to traditional RNA-Seq in many applications
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Allograft outcome following repeat transplantation of patients with non-adherence-related first kidney allograft failure: a population cohort studyThe associations between causes of first allograft failure and acute rejection-related and non-adherence-related allograft failure following re-transplantation