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        Research

        Severity Assessment in CDKL5 Deficiency Disorder

        A severity assessment was rapidly developed with input from multiple stakeholders. Refinement through ongoing validation is required for future clinical trials. ...

        Research

        Quantification of walking-based physical activity and sedentary time in individuals with Rett syndrome

        Quantifying individual's with Rett syndrome with the ability to walk, walking based activities and sedentary time, analyzing a variety of influences. ...

        Research

        Building the repertoire of measures of walking in Rett syndrome

        This study aimed to determine measurement properties of a modified 2MWT and a modified Rett syndrome-specific FMS-RS in Rett syndrome. ...

        Research

        Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorder

        Epilepsy is pervasive but not mandatory for the CDKL5 disorder, and genotype and functional abilities were related to seizure frequency ...

        Research

        The phenotype associated with a large deletion on MECP2

        Multiplex ligation-dependent Probe Amplification (MLPA) has become available for the detection of a large deletion on the MECP2 gene. ...

        News & Events

        Collaboration key to wet cough prevention

        Prevalence of chronic lung disease in Aboriginal children is conservatively estimated at 1.5 per cent ...

        News & Events

        Major funding for WA super science capacity

        he new super science of bioinformatics has been given a $1.3 million boost with the launch of the The McCusker Charitable Foundation Bioinformatics Centre ...

        Research

        BEACHES: Built Environments and Child Health in WalEs and AuStralia

        Hayley Pete Trina Christian Gething Robinson HC PG TR BSc (1st Class Hons), PhD W.Aust. BSc, PostGrad Dip (Health Promotion) Program Head, Healthy ...

        News & Events

        Researchers receive crucial near miss funding

        Congratulations to three outstanding Telethon Kids Institute researchers who have received second chance WA health funding designed to support researchers who have narrowly missed out on highly competitive national funding. ...

        News & Events

        Renowned Autism Researcher named Western Australian of the Year

        Autism researcher Professor Andrew Whitehouse has been named this year’s Western Australian of the Year in the HBF Professions category. ...

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