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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
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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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).
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Modern and traditional diets for Noongar infantsBreast- & bottle-feeding patterns & the introduction of solid feeds & sugar containing drinks to the dietary intake of a cohort of urban Aboriginal infants
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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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No clear genetic influences on the association between dyslexia and anxiety in a population-based sample of female twinsIndividuals with dyslexia are at an increased risk for anxiety disorders (e.g. generalized anxiety disorder, stress disorders, panic disorder).
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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...
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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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Receptor mutation is not a common mechanism of naturally occurring glucocorticoid resistance in leukaemia cell linesGlucocorticoids (GCs) are among the most important drugs for the treatment of acute lymphoblastic leukaemia (ALL).
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Expression of kinin receptors on eosinophils: comparison of asthmatic patients and healthy subjectsThe aims of this study were to investigate kinin receptor expression on eosinophils of asthmatic and healthy subjects