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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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Identification of genes differentially regulated by vitamin D deficiency that alter lung pathophysiology and inflammation in allergic airways diseaseVitamin D deficiency exacerbates house dust mite-induced inflammation and alterations in lung structure and function
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Vitamin D and allergic airway disease shape the murine lung microbiome in a sex-specific mannerMaintaining sufficient vitamin D is necessary for optimal lung health, and vitamin D may modulate the lung microbiome in a sex-specific fashion
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Further examination of the reducing transition rate in ultra high risk for psychosis samples: The possible role of earlier interventionThe rate of transition to psychotic disorder in ultra high risk (UHR) patients has declined in recent cohorts. The reasons for this are unclear, but may...
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A time series analysis of alcohol-related presentations to emergency departments in Queensland following the increase in alcopops taxThe increase in tax on ‘alcopops’ did not result in any reduction in alcohol-related harms in this population
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Asbestos-Related Non-Malignant Pleural Disease and MesotheliomaThis chapter deals with asbestos-related non-malignant pleural disease and mesothelioma.
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Management of invasive group A streptococcal infectionsInvasive group A streptococcal disease in children includes deep soft tissue infection, bacteraemia, bacteraemic pneumonia, meningitis and osteomyelitis
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Family satisfaction following spinal fusion in Rett syndromeWe evaluated family satisfaction following spinal fusion in girls with Rett syndrome
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Prevalence, clinical investigation, and management of gallbladder disease in Rett syndromeThis study determined the prevalence of cholelithiasis and/or cholecystectomy in Rett syndrome, described gallbladder function in a clinical cohort, and...
Research
Early respiratory infection is associated with reduced spirometry in children with cystic fibrosisWe hypothesized that the presence of these markers of cystic fibrosis lung disease in the first 2 years of life would be associated with reduced lung...