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        581-590 of 654 results for 'Gene'

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        Research

        Determinants of sleep disturbances in Rett syndrome: Novel findings in relation to genotype

        Prevalence and determinants of sleep problems in Rett syndrome ...

        Research

        FBXO11, a regulator of the TGFΒ pathway, is associated with severe otitis media in Western Australian children

        Otitis media (OM) is a common childhood disease characterised by middle ear inflammation following infection ...

        Custom Medicine for Kids

        Thanks to an enabling donation from the Stan Perron Charitable Foundation, Telethon Kids Institute is home to one of the first paediatric personalised medicine research centres in the world. ...

        News & Events

        Wal-yan researchers to present at largest respiratory meeting in the world

        A large contingent of researchers from the Wal-yan Respiratory Research Centre are heading to Spain in September to participate in the European Respiratory Society (ERS) International Congress – the largest respiratory meeting in the world. ...

        Research

        Improved diagnosis, treatment and prevention of recurrent tonsillitis

        Anthony Janessa Ruth Tim Kicic Pickering Thornton Barnett A Dr RT TB BSc (Hons) PhD BSc PhD PhD PhD Rothwell Family Fellow; Head, Airway Epithelial ...

        Achievements

        Discover the impact of our achievements in the "real world". Our children's health research is having a genuine effect on improving the lives of kids worldwide. ...

        Research

        CRISPR single base editing, neuronal disease modelling and functional genomics for genetic variant analysis: pipeline validation using Kleefstra syndrome EHMT1 haploinsufficiency

        Over 400 million people worldwide are living with a rare disease. Next Generation Sequencing identifies potential disease causative genetic variants. However, many are identified as variants of uncertain significance and require functional laboratory validation to determine pathogenicity, and this creates major diagnostic delays. ...

        Research

        Longitudinal effects of caregiving on parental well-being: the example of Rett syndrome, a severe neurological disorder

        Our findings suggest that some opportunities do exist for clinicians to help optimise parental well-being ...

        Research

        Systematic chemical and molecular profiling of MLL-rearranged infant acute lymphoblastic leukemia reveals efficacy of romidepsin

        Present a valuable resource for drug discovery and have identified ROM as a promising therapeutic for MLL-rearranged iALL ...

        Publications

        Mori Y, Downs J, Wong K, et al. Longitudinal effects of caregiving on parental well-being: the example of Rett syndrome, a severe neurological ...

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