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Showing results for "Au"
Research
Environmental Factors in Children's Asthma and Respiratory EffectsChildhood asthma is a condition characterized by airflow obstruction that varies in time spontaneously, in response to various environmental stimuli...
Research
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation familiesEpilepsy and mental retardation limited to females (EFMR) is an intriguing X-linked disorder affecting heterozygous females and sparing hemizygous males.
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Comparison of a rapid antigen test with nucleic acid testing during cocirculation of pandemic influenza A/H1N1 09 and Seasonal influena A/H3N2The rapid diagnosis of influenza is critical in optimizing clinical management. Rapid antigen tests have decreased sensitivity in detecting pandemic influenza.
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Rare childhood diseases: how should we respond?Paradoxically, rare diseases are common, collectively affecting 6-10% of the population and have a huge impact on patients and families, health services,...
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The diagnosis of autism in a female: could it be Rett syndrome?The aims of this study were to compare the early and subsequent clinical courses of female subjects with Rett syndrome categorised by whether...
Research
Seizures in Rett syndrome: an overview from a one-year calendar studyInformation on daily seizure occurrence and health service utilization and monthly anti-epileptic drug use was provided on 162 Rett syndrome cases for a...
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The effects of maternal smoking on early mucosal immunity and sensitization at 12 months of ageIn this study, we examined the effects of maternal smoking as a major adverse exposure in early life, on mucosal immune function and allergen sensitization...
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Early progressive encephalopathy in boys and MECP2 mutationsMECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy...
Research
NTNG1 mutations are a rare cause of Rett syndromeA translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT).
News & Events
New study shows alcohol use ‘common’ during pregnancyThe Kids Research Institute Australia's Professor Carol Bower is not surprised by new research that shows alcohol use in pregnancy is 'common'.