检索结果 - Steven A. Skinner

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  1. 1
    Neurobiologically-based treatments in Rett syndrome: opportunities and challenges

    Neurobiologically-based treatments in Rett syndrome: opportunities and challenges 由 Walter E. Kaufmann, Jennifer L. Stallworth, David B. Everman, Steven A. Skinner

    出版 2016
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  2. 2
    Metabolic Signatures Differentiate Rett Syndrome From Unaffected Siblings

    Metabolic Signatures Differentiate Rett Syndrome From Unaffected Siblings 由 Jeffrey L. Neul, Steven A. Skinner, Fran Annese, Jane B. Lane, Peter Heydemann, Mary Jones, Walter E. Kaufmann, Daniel G. Glaze, Alan K. Percy

    出版 2020
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  3. 3
    The Changing Face of Survival in Rett Syndrome and MECP2-Related Disorders

    The Changing Face of Survival in Rett Syndrome and MECP2-Related Disorders 由 Daniel Tarquinio, Wei Hou, Jeffrey L. Neul, Walter E. Kaufmann, Daniel G. Glaze, Kathleen J. Motil, Steven A. Skinner, Hye Seung Lee, Alan K. Percy

    出版 2015
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  4. 4
    Pubertal Development in Rett Syndrome Deviates From Typical Females

    Pubertal Development in Rett Syndrome Deviates From Typical Females 由 John T. Killian, Jane B. Lane, Gary Cutter, Steven A. Skinner, Walter E. Kaufmann, Daniel Tarquinio, Daniel G. Glaze, Kathleen J. Motil, Jeffrey L. Neul, Alan K. Percy

    出版 2014
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  5. 5
    Longitudinal course of epilepsy in Rett syndrome and related disorders

    Longitudinal course of epilepsy in Rett syndrome and related disorders 由 Daniel Tarquinio, Wei Hou, Anne T. Berg, Walter E. Kaufmann, Jane B. Lane, Steven A. Skinner, Kathleen J. Motil, Jeffrey L. Neul, Alan K. Percy, Daniel G. Glaze

    出版 2016
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  6. 6
    Behavioral profiles in Rett syndrome: Data from the natural history study

    Behavioral profiles in Rett syndrome: Data from the natural history study 由 Caroline B. Buchanan, Jennifer L. Stallworth, Alexandra E. Scott, Daniel G. Glaze, Jane B. Lane, Steven A. Skinner, Aubin E. Tierney, Alan K. Percy, Jeffrey L. Neul, Walter E. Kaufmann

    出版 2018
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  7. 7
    Epilepsy and the natural history of Rett syndrome

    Epilepsy and the natural history of Rett syndrome 由 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

    出版 2010
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  8. 8
    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 由 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

    出版 2012
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  9. 9
    Profiling Scoliosis in Rett Syndrome

    Profiling Scoliosis in Rett Syndrome 由 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

    出版 2010
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  10. 10
    Pathogenesis of Lethal Cardiac Arrhythmias in <i>Mecp2</i> Mutant Mice: Implication for Therapy in Rett Syndrome

    Pathogenesis of Lethal Cardiac Arrhythmias in <i>Mecp2</i> Mutant Mice: Implication for Therapy in Rett Syndrome 由 Mark McCauley, Tiannan Wang, Elise V. Mike, José A. Herrera, David L. Beavers, Teng-Wei Huang, Christopher Ward, Steven A. Skinner, Alan K. Percy, Daniel G. Glaze, Xander H.T. Wehrens, Jeffrey L. Neul

    出版 2011
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  11. 11
    Multisite Assessment of Optical Genome Mapping for Analysis of Structural Variants in Constitutional Postnatal Cases

    Multisite Assessment of Optical Genome Mapping for Analysis of Structural Variants in Constitutional Postnatal Cases 由 M. Anwar Iqbal, Ulrich Broeckel, Brynn Levy, Steven A. Skinner, Nikhil Sahajpal, Vanessa Rodríguez‐Fanjul, Aaron A. Stence, Kamel Awayda, Gunter Scharer, Cindy Skinner, Roger E. Stevenson, Aaron Bossler, Péter L. Nagy, Ravindra Kolhe

    出版 2023
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  12. 12
    Growth failure and outcome in Rett syndrome

    Growth failure and outcome in Rett syndrome 由 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

    出版 2012
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  13. 13
    Rett syndrome diagnostic criteria: Lessons from the Natural History Study

    Rett syndrome diagnostic criteria: Lessons from the Natural History Study 由 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

    出版 2010
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  14. 14
    Developmental delay in Rett syndrome: data from the natural history study

    Developmental delay in Rett syndrome: data from the natural history study 由 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

    出版 2014
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  15. 15
    The course of awake breathing disturbances across the lifespan in Rett syndrome

    The course of awake breathing disturbances across the lifespan in Rett syndrome 由 Daniel Tarquinio, Wei Hou, Jeffrey L. Neul, Gamze Kilic Berkmen, Jana B. Drummond, Elizabeth Aronoff, Jennifer A. Harris, Jane B. Lane, Walter E. Kaufmann, Kathleen J. Motil, Daniel G. Glaze, Steven A. Skinner, Alan K. Percy

    出版 2018
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  16. 16
    <i>Methyl-CpG-binding protein 2</i>(<i>MECP2</i>) mutation type is associated with disease severity in Rett syndrome

    <i>Methyl-CpG-binding protein 2</i>(<i>MECP2</i>) mutation type is associated with disease severity in Rett syndrome 由 Vishnu Anand Cuddapah, Rajesh B Pillai, Kiran V Shekar, Jane B. Lane, Kathleen J. Motil, Steven A. Skinner, Daniel Tarquinio, Daniel G. Glaze, Gerald McGwin, Walter E. Kaufmann, Alan K. Percy, Jeffrey L. Neul, Michelle L. Olsen

    出版 2014
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  17. 17
    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 由 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

    出版 2016
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  18. 18
    MEF2C Hypofunction in Neuronal and Neuroimmune Populations Produces MEF2C Haploinsufficiency Syndrome–like Behaviors in Mice

    MEF2C Hypofunction in Neuronal and Neuroimmune Populations Produces MEF2C Haploinsufficiency Syndrome–like Behaviors in Mice 由 Adam J. Harrington, Catherine Bridges, Stefano Berto, Kayla Blankenship, Jennifer Y. Cho, Ahlem Assali, Benjamin M. Siemsen, Hannah W. Moore, Tsvetkov Ea, Acadia Thielking, Geneviève Konopka, David B. Everman, Michael D. Scofield, Steven A. Skinner, Christopher W. Cowan

    出版 2020
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  19. 19
    A Neurodevelopmental Survey of Angelman Syndrome With Genotype-Phenotype Correlations

    A Neurodevelopmental Survey of Angelman Syndrome With Genotype-Phenotype Correlations 由 Jennifer Gentile, Wen‐Hann Tan, Lucia T. Horowitz, Carlos A. Bacino, Steven A. Skinner, Rene Barbieri‐Welge, Astrid Bauer‐Carlin, Arthur L. Beaudet, Terry Jo Bichell, Hye‐Seung Lee, Trilochan Sahoo, Susan E. Waisbren, Lynne M. Bird, Sarika U. Peters

    出版 2010
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  20. 20
    Top caregiver concerns in Rett syndrome and related disorders: data from the US natural history study

    Top caregiver concerns in Rett syndrome and related disorders: data from the US natural history study 由 Jeffrey L. Neul, Tim A. Benke, Eric D. Marsh, Bernhard Suter, Lori Silveira, Cary Fu, Sarika U. Peters, Alan K. Percy, Steven A. Skinner, Peter Heydemann, Robin C. Ryther, Richard Haas, David N. Lieberman, A. Beisang, Timothy Feyma, Shannon M. Standridge

    出版 2023
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