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        Research

        Multi-site validation of a suite of clinical outcome measures for clinical trial readiness in the CDKL5 Deficiency Disorder

        Helen Jenny Peter Leonard Downs Jacoby HM JA PJ MBChB MPH BApplSci (physio) MSc PhD BA (Hons) MSc Principal Research Fellow Program Head, ...

        Research

        The natural history of the MECP2 Duplication disorder: Australian surveillance and plans for development of an international register

        Helen Jenny Leonard Downs HM JA MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Program Head, Development and Disability +61 419 956 ...

        Research

        Therapeutic opportunities from dissecting the pre-B leukaemia bone marrow microenvironment

        Laurence Rishi Sury Sébastien Cheung Kotecha Malinge LC RS SM BPharm (Hons) MBA PhD MB ChB (Hons) MRCPCH FRACP PhD PhD Co-Head, Leukaemia ...

        News & Events

        Telethon Kids researchers finalists in Premier’s Science Awards

        Telethon Kids Institute has two researchers and an innovative science engagement initiative as finalists in the 2017 Premier’s Science Awards. ...

        News & Events

        FASD resources for the justice system

        Researchers at the Telethon Kids Institute have developed a range of new resources to help lawyers, judicial officers and other justice professionals ...

        Research

        Morbidity in survivors of child and adolescent meningioma

        Given the paucity of data concerning long-term outcome, the authors undertook a meta-analysis to analyze morbidity in survivors of this disease. ...

        Research

        Linking MECP2 and pain sensitivity: the example of Rett syndrome

        This study investigated the nature and prevalence of atypical pain responses in Rett syndrome and their relationships with specific MECP2 mutations. ...

        Research

        Stereotypical hand movements in 144 subjects with Rett syndrome from the population-based Australian database

        Stereotypic hand movements are a feature of Rett Syndrome but few studies have observed their nature systematically. ...

        Research

        Growth patterns in individuals with CDKL5 deficiency disorder

        Aim: To compare growth in individuals with cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder with population norms and to investigate the effect of gastrostomy on growth.  ...

        Research

        Charting developmental trajectories from 12 to 36 months and associated early risk and protective factors

        To investigate developmental trajectories in early childhood and predictors of class assignment. ...

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