Risultati della ricerca - Fran Annese

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  1. 1
    Longevity in Rett Syndrome: Analysis of the North American Database

    Longevity in Rett Syndrome: Analysis of the North American Database di Russell S. Kirby, Jane B. Lane, Jerry Childers, Steve Skinner, Fran Annese, Judy O. Barrish, Daniel G. Glaze, Patrick MacLeod, Alan K. Percy

    Pubblicazione 2009
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  2. 2
    Epilepsy and the natural history of Rett syndrome

    Epilepsy and the natural history of Rett syndrome di Daniel G. Glaze, Alan K. Percy, Steven A. Skinner, Kathleen J. Motil, Jeffrey L. Neul, Judy O. Barrish, Jane B. Lane, Suzanne Geerts, Fran Annese, Joy Graham, Lauren McNair, H. -S. Lee

    Pubblicazione 2010
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  3. 3
    Gastrointestinal and Nutritional Problems Occur Frequently Throughout Life in Girls and Women With Rett Syndrome

    Gastrointestinal and Nutritional Problems Occur Frequently Throughout Life in Girls and Women With Rett Syndrome di Kathleen J. Motil, Erwin Caeg, Judy O. Barrish, Suzanne Geerts, Jane B. Lane, Alan K. Percy, Fran Annese, Lauren McNair, Steven A. Skinner, Hye‐Seung Lee, Jeffrey L. Neul, Daniel G. Glaze

    Pubblicazione 2012
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  4. 4
    Profiling Scoliosis in Rett Syndrome

    Profiling Scoliosis in Rett Syndrome di Alan K. Percy, Hye‐Seung Lee, Jeffrey L. Neul, Jane B. Lane, Steven A. Skinner, Suzanne Geerts, Fran Annese, Joy Graham, Lauren McNair, Kathleen J. Motil, Judy O. Barrish, Daniel G. Glaze

    Pubblicazione 2010
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  5. 5
    Growth failure and outcome in Rett syndrome

    Growth failure and outcome in Rett syndrome di Daniel Tarquinio, Kathleen J. Motil, Wei Hou, Hye Seung Lee, Daniel G. Glaze, Steven A. Skinner, Jeffrey L. Neul, Fran Annese, Lauren McNair, Judy O. Barrish, Suzanne Geerts, Jane B. Lane, Alan K. Percy

    Pubblicazione 2012
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  6. 6
    Rett syndrome diagnostic criteria: Lessons from the Natural History Study

    Rett syndrome diagnostic criteria: Lessons from the Natural History Study di Alan K. Percy, Jeffrey L. Neul, Daniel G. Glaze, Kathleen J. Motil, Steven A. Skinner, Omar Khwaja, Hye‐Seung Lee, Jane B. Lane, Judy O. Barrish, Fran Annese, Lauren McNair, Joy Graham, Katherine Barnes

    Pubblicazione 2010
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  7. 7
    Developmental delay in Rett syndrome: data from the natural history study

    Developmental delay in Rett syndrome: data from the natural history study di Jeffrey L. Neul, Jane B. Lane, Hye Seung Lee, Suzanne Geerts, Judy O. Barrish, Fran Annese, Lauren Baggett, Katherine Barnes, Steven A. Skinner, Kathleen J. Motil, Daniel G. Glaze, Walter E. Kaufmann, Alan K. Percy

    Pubblicazione 2014
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  8. 8
    Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2

    Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2 di Samin A. Sajan, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, James R. Lupski, Daniel G. Glaze, Walter E. Kaufmann, Steven A. Skinner, Fran Annese, Michael J. Friez, Jane B. Lane, Alan K. Percy, Jeffrey L. Neul

    Pubblicazione 2016
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  9. 9
    Clinical severity and quality of life in children and adolescents with Rett syndrome

    Clinical severity and quality of life in children and adolescents with Rett syndrome di Jane B. Lane, Hong Sik Lee, Lucas Smith, Peng Cheng, Alan K. Percy, Daniel G. Glaze, Jeffrey L. Neul, Kathleen J. Motil, Judy O. Barrish, Steven A. Skinner, Fran Annese, Lauren McNair, Joy Graham, Omar Khwaja, Katherine Barnes, Jeffrey P. Krischer

    Pubblicazione 2011
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  10. 10
    Age of Diagnosis in Rett Syndrome: Patterns of Recognition Among Diagnosticians and Risk Factors for Late Diagnosis

    Age of Diagnosis in Rett Syndrome: Patterns of Recognition Among Diagnosticians and Risk Factors for Late Diagnosis di Daniel Tarquinio, Wei Hou, Jeffrey L. Neul, Jane B. Lane, Katherine V. Barnes, Heather M. O’Leary, Natalie M. Bruck, Walter E. Kaufmann, Kathleen J. Motil, Daniel G. Glaze, Steven A. Skinner, Fran Annese, Lauren Baggett, Judy O. Barrish, Suzanne Geerts, Alan K. Percy

    Pubblicazione 2015
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  11. 11
    Rare Noncoding Mutations Extend the Mutational Spectrum in the <i>PGAP3</i> Subtype of Hyperphosphatasia with Mental Retardation Syndrome

    Rare Noncoding Mutations Extend the Mutational Spectrum in the <i>PGAP3</i> Subtype of Hyperphosphatasia with Mental Retardation Syndrome di Alexej Knaus, Tomonari Awaya, Ingo Helbig, Zaid Afawi, Manuela Pendziwiat, Jubran Abu‐Rachma, Miles D. Thompson, David E.C. Cole, Steve Skinner, Fran Annese, Natalie Canham, Michal R. Schweiger, Peter N. Robinson, Stefan Mundlos, Taroh Kinoshita, Arnold Münnich, Yoshiko Murakami, Denise Horn, Peter Krawitz

    Pubblicazione 2016
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