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Research
Expanding the clinical picture of the MECP2 Duplication syndromePeople with two or more copies of MECP2 gene, located at Xq28, share clinical features and a distinct facial phenotype called MECP2 Duplication syndrome.
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Investigating the relationship between environmental factors and respiratory health outcomes in school children using the forced oscillation techniqueThe significance of both indoor and outdoor sources of air pollution and effect modifiers such as green space and heating require further investigation
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Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delaysParents of children living with rare chronic and complex diseases have called for better education and resourcing of health professionals
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Australian Aboriginal children with otitis media have reduced antibody titers to specific nontypeable Haemophilus influenzae vaccine antigensdecreased serum IgG responses to NTHi outer membrane proteins may contribute to the development of chronic and severe OM in Australian Aboriginal children
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International consensus (ICON) on: Clinical consequences of mite hypersensitivity, a global problemThe objectives of this document are to highlight aspects of mite biology that are clinically relevant and to update the current knowledge on mite allergens
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A novel technique of serial biopsy in mouse brain tumour modelsHere we describe a method by which serial biopsy can be used to validate response to dacomitinib treatment in vivo using a mouse glioblastoma model
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Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database studyOur aims were to characterize the abnormal breathing patterns and abdominal bloating, investigate the distribution of these by age and mutation type and examine their impact and management from a caregiver perspective.
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Sub-erythemal ultraviolet radiation reduces metabolic dysfunction in already overweight miceExposure to sunlight may limit cardiometabolic risk.
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Endocrine and metabolic consequences due to restrictive carbohydrate diets in children with type 1 diabetes: An illustrative case seriesWe describe a series of 6 cases where adoption of a low carbohydrate diet in children impacted growth and cardiovascular risk factors with potential long-term sequelae.
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Pulmonary microRNA profiles identify involvement of Creb1 and Sec14l3 in bronchial epithelial changes in allergic asthmaIn this study, we aimed to use microRNAs-which are critical regulators of signaling cascades-to identify so far uncharacterized asthma pathogenesis pathways