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        231-240 of 510 results for 'rett syndrome'

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        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. ...

        MECP2 duplication syndrome (MDBase)

        MECP2 duplication syndrome is a rare, X-linked, neurodevelopmental disorder that, unlike Rett syndrome, is more likely to affect boys. There is still ...

        Research

        Strengths and challenging behaviors in children and adolescents with Prader-Willi syndrome: Two sides to the coin

        Prader-Willi Syndrome (PWS) is a rare genetic disorder associated with emotional/behavioral disturbances. These difficulties are well documented in the literature, but the positive attributes of these individuals are not described. ...

        Research

        Family functioning in families with a child with Down syndrome: A mixed methods approach

        This study aimed to explore the factors that predict functioning in families with a child with Down syndrome using a mixed methods design. ...

        Research

        Siblings of children with disabilities: challenges and opportunities

        Siblings of children with disabilities: challenges and opportunities ...

        Research

        Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2

        Rett syndrome (RTT) is an X linked neuro-developmental disorder affecting mostly girls. Mutations in the coding region of MECP2 are found in 80% of classic... ...

        Research

        Description of Total Population Hospital Admissions for Treacher Collins Syndrome in Australia

        To describe patterns and demographic characteristics of total-population hospital admissions with a diagnosis of Treacher Collins syndrome (TCS) in Australia. ...

        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 ...

        Consumer reference group

        Contact Us To find out any more information about how you can be involved, don't hesitate to contact us. Email: Helen.Leonard@telethonkids.org.au  ...

        Research

        It's not what you were expecting, but it's still a beautiful journey: The experience of mothers of children with Down syndrome

        The purpose of this study was to describe qualitatively the experience of parenting for mothers of a child with Down syndrome. ...

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