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Overview of health issues in school-aged children with Down SyndromeOverview of Health Issues in School-aged Children with Down Syndrome
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InterRett, a model for international data collection in a rare genetic disorderThis study compared socio-demographic, clinical and genetic characteristics of the international database, InterRett, and the population-based Australian...
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Feeding experiences and growth status in a Rett syndrome populationFeeding difficulties in Rett syndrome are complex and multifactorial. In this study, we describe the feeding experiences in Rett syndrome and examine the...
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Correlation between clinical severity in patients with Rett syndromeRett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder that is usually associated with mutations in the MECP2 gene.
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Rett syndrome in Australia: a review of the epidemiologyTo examine the prevalence, cumulative incidence, and survival in an Australian cohort with Rett syndrome (RTT).

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A process and impact evaluation of use of a Powered Wheelchair Standing Device by boys with Duchenne muscular dystrophyGraham Jenny Peter Hall Downs Jacoby BAppSci PhD CRFS FANZSRS FThorSoc FERS BApplSci (physio) MSc PhD BA (Hons) MSc Honorary Research Associate
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Establishing a national platform for the provision of evidence based practice in Prader-Willi syndromeHelen Jenny Leonard Downs MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Program Head, Development and Disability +61 419 956 946 08
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International Rett syndrome study: InterRettHelen Jenny Leonard Downs MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Program Head, Development and Disability +61 419 956 946 08
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Modifiable child and caregiver factors that influence community participation among children with Down syndromeTo investigate modifiable child and caregiver factors influencing community participation among children with Down syndrome.