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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.
Research
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,...
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).
Research
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...
Research
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.
Research
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
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...
News & Events
WATCH: Working Together after the referendumProfessor Helen Milroy, Michael Mitchell, and Professors Roz Walker and Pat Dudgeon sat on the panel to discuss Working Together, 10 years on.
News & Events
Social and emotional wellbeing with Deadly Sista GirlzA mentally healthy future for all children About Embrace Please direct general enquiries to our reception on (08) 6319 1000. Please direct media