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Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical ReviewClinical presentations and genetic variations in Cyclin-dependent kinase-like 5 deficiency disorder based on a systematic literature review and experience
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Could home-based FeNO measurements breathe new life into asthma management?Developing a FeNO test that is affordable enough to allow daily measurements, patients will be able to access quantifiable data to assist them to monitor their asthma
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Systematic Review of the Effects of Ultraviolet Radiation on Markers of Metabolic DysfunctionHere we review the metabolic effects of exposure to ultraviolet radiation, focusing on the effects of phototherapies
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Vitamin D metabolites are lower with active Crohn’s disease and spontaneously recover with development of remissionWe aimed to characterise vitamin D metabolism in a cohort of patients with active and inactive Crohn’s disease
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Role of HLA-DQ typing and anti-tissue transglutaminase antibody titers in diagnosing celiac disease without duodenal biopsy in type 1 diabetesHLA-DQ typing is not cost effective as a first-line screening test for CD in T1D patients because of over-representation of CD permissive HLA alleles in this group
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Exposure to bile leads to the emergence of adaptive signaling variants in the opportunistic pathogen pseudomonas aeruginosaAdaptive variants of P. aeruginosa that arise following long term bile exposure enables the emergence of ecologically competitive sub-populations
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Nature play and fundamental movement skills training programs improve childcare educator supportive physical activity behaviorBoth the Nature play and fundamental movement skills professional development programs were effective in improving educators’ self-efficacy to engage children
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The incidence, prevalence and clinical features of MECP2 duplication syndrome in Australian childrenMECP2 duplication syndrome is a rare but important diagnosis in children because of the burden of respiratory illness and recurrence risk
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Recurrence Risk of Autism in Siblings and Cousins: A Multinational, Population-Based StudyThe present estimates of relative recurrence risks for autism spectrum disorder and childhood autism will assist clinicians and families in understanding autism risk
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Public health and economic perspectives on acute rheumatic fever and rheumatic heart diseaseEfforts to eliminate ARF and RHD in Australia over the past decade have so far been unsuccessful, but this can change