检索结果 - Jenny Downs

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  1. 1
    Clinical and biological progress over 50 years in Rett syndrome

    Clinical and biological progress over 50 years in Rett syndrome 由 Helen Leonard, Stuart Cobb, Jenny Downs

    出版 2016
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  2. 2
    Impact of biobanks on research outcomes in rare diseases: a systematic review

    Impact of biobanks on research outcomes in rare diseases: a systematic review 由 Monique Garcia, Jenny Downs, Alyce Russell, Wei Wang

    出版 2018
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  3. 3
    Using a large international sample to investigate epilepsy in <scp>R</scp>ett syndrome

    Using a large international sample to investigate epilepsy in <scp>R</scp>ett syndrome 由 Xinhua Bao, Jenny Downs, Kingsley Wong, Simon Williams, Helen Leonard

    出版 2013
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  4. 4
    Twenty years of surveillance in Rett syndrome: what does this tell us?

    Twenty years of surveillance in Rett syndrome: what does this tell us? 由 Alison Anderson, Kingsley Wong, Peter Jacoby, Jenny Downs, Helen Leonard

    出版 2014
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  5. 5
    The trajectories of sleep disturbances in Rett syndrome

    The trajectories of sleep disturbances in Rett syndrome 由 Kingsley Wong, Helen Leonard, Peter Jacoby, Carolyn Ellaway, Jenny Downs

    出版 2014
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  6. 6
    Early development and regression in Rett syndrome

    Early development and regression in Rett syndrome 由 J.Y.L. Lee, Helen Leonard, Jan P. Piek, Jenny Downs

    出版 2013
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  7. 7
    Impacts of caring for a child with the CDKL5 disorder on parental wellbeing and family quality of life

    Impacts of caring for a child with the CDKL5 disorder on parental wellbeing and family quality of life 由 Yuka Mori, Jenny Downs, Kingsley Wong, Barbara Anderson, Amy Epstein, Helen Leonard

    出版 2017
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  8. 8
    Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study

    Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study 由 Jessica Mackay, Jenny Downs, Kingsley Wong, Jane Heyworth, Amy Epstein, Helen Leonard

    出版 2017
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  9. 9
    A brief history of MECP2 duplication syndrome: 20-years of clinical understanding

    A brief history of MECP2 duplication syndrome: 20-years of clinical understanding 由 Daniel Ta, Jenny Downs, Gareth Baynam, Andrew Wilson, Peter Richmond, Helen Leonard

    出版 2022
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  10. 10
    Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome

    Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome 由 Meghana Mangatt, Kingsley Wong, Barbara Anderson, Amy Epstein, Stuart I. Hodgetts, Helen Leonard, Jenny Downs

    出版 2016
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  11. 11
    Validating the Rett Syndrome Gross Motor Scale

    Validating the Rett Syndrome Gross Motor Scale 由 Jenny Downs, Michelle Stahlhut, Kingsley Wong, Birgit Syhler, Anne‐Marie Bisgaard, Peter Jacoby, Helen Leonard

    出版 2016
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  12. 12
    CDKL5 deficiency disorder: clinical features, diagnosis, and management

    CDKL5 deficiency disorder: clinical features, diagnosis, and management 由 Helen Leonard, Jenny Downs, Tim A. Benke, Lindsay C. Swanson, Heather E. Olson, Scott Demarest

    出版 2022
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  13. 13
    Level of purposeful hand function as a marker of clinical severity in Rett syndrome

    Level of purposeful hand function as a marker of clinical severity in Rett syndrome 由 Jenny Downs, Ami Bebbington, Peter Jacoby, ANNE‐MARIE WILLIAMS, Soumya Ghosh, Walter E. Kaufmann, Helen Leonard

    出版 2010
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  14. 14
    Trends in the Diagnosis of Rett Syndrome in Australia

    Trends in the Diagnosis of Rett Syndrome in Australia 由 Stephanie Fehr, Ami Bebbington, Natasha Nassar, Jenny Downs, Gabriel M. Ronen, Nicholas de Klerk, Helen Leonard

    出版 2011
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  15. 15
    Linking <i>MECP2</i> and pain sensitivity: The example of Rett syndrome

    Linking <i>MECP2</i> and pain sensitivity: The example of Rett syndrome 由 Jenny Downs, Sandrine M. Géranton, Ami Bebbington, Peter Jacoby, Nadia Bahi‐Buisson, David Ravine, Helen Leonard

    出版 2010
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  16. 16
    There is variability in the attainment of developmental milestones in the CDKL5 disorder

    There is variability in the attainment of developmental milestones in the CDKL5 disorder 由 Stephanie Fehr, Helen Leonard, Gladys Ho, Simon Williams, Nicholas de Klerk, David Forbes, John Christodoulou, Jenny Downs

    出版 2015
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  17. 17
    Functional abilities in children and adults with the CDKL5 disorder

    Functional abilities in children and adults with the CDKL5 disorder 由 Stephanie Fehr, Jenny Downs, Gladys Ho, Nicholas de Klerk, David Forbes, John Christodoulou, Simon Williams, Helen Leonard

    出版 2016
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  18. 18
    Environmental enrichment intervention for Rett syndrome: an individually randomised stepped wedge trial

    Environmental enrichment intervention for Rett syndrome: an individually randomised stepped wedge trial 由 Jenny Downs, Jennifer Rodger, Chen Li, Xuesong Tan, Nan Hu, Kingsley Wong, Nicholas de Klerk, Helen Leonard

    出版 2018
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  19. 19
    Effectiveness of current digital cognitive behavioural therapy for insomnia interventions for adolescents with insomnia symptoms: A systematic review and meta‐analysis

    Effectiveness of current digital cognitive behavioural therapy for insomnia interventions for adolescents with insomnia symptoms: A systematic review and meta‐analysis 由 Michele A. Cleary, Cele Richardson, R J Ross, Helen Heussler, Andrew Wilson, Jenny Downs, Jennifer H. Walsh

    出版 2025
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  20. 20
    Conceptualizing a quality of life framework for girls with Rett syndrome using qualitative methods

    Conceptualizing a quality of life framework for girls with Rett syndrome using qualitative methods 由 Amy Epstein, Helen Leonard, Elise Davis, Katrina Williams, Dinah Reddihough, Nada Murphy, Andrew J. O. Whitehouse, Jenny Downs

    出版 2015
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