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        Research

        What effect does regular exercise have on oxidative stress in people with Down syndrome? A systematic review with meta-analyses

        There remains uncertainty about the effect of exercise on oxidative stress in people with Down syndrome ...

        Research

        Functional abilities in children and adults with the CDKL5 disorder

        Although abilities were markedly impaired for the majority with the CDKL5 disorder, some females and a few males had better functional abilities ...

        Research

        A qualitative investigation of recovery after femoral fracture in Rett syndrome

        Jenny Helen Downs Leonard JA HM BApplSci (physio) MSc PhD MBChB MPH Program Head, Development and Disability Principal Research Fellow 08 6319 1763 ...

        Research

        END RHD

        Glenn Jonathan Katharine Rosemary Pearson Carapetis AM Noonan Wyber G JR KN R BA (Education) PhD Candidate AM MBBS FRACP FAFPHM PhD FAHMS MBBS (Hons) ...

        Research

        A data infrastructure for improving Aboriginal life pathways: the influence of health, education, child protection and justice systems over time and across generations

        Francis Glenn Steve Sarah Mitrou Pearson Zubrick Johnson FG G SR SJ BEc BA (Education) PhD Candidate FASSA, FAAMHS, MSc AM PhD BA, PostGradDip; PhD ...

        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. ...

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