Výsledky vyhledávání - Skinner, Steven A.

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

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When Rett syndrome is due to genes other than MECP2 Autor Percy, Alan K., Lane, Jane, Annese, Fran, Warren, Hannah, Skinner, Steven A., Neul, Jeffrey L.

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Tremors: A concept analysis Autor Cooley Coleman, Jessica A., Sarasua, Sara M., Boccuto, Luigi, Moore, Hannah W., Skinner, Steven A., DeLuca, Jane M.

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Clinical findings from the landmark MEF2C ‐related disorders natural history study Autor Cooley Coleman, Jessica A., Sarasua, Sara M., Moore, Hannah Warren, Boccuto, Luigi, Cowan, Christopher W., Skinner, Steven A., DeLuca, Jane M.

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

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Two unrelated patients with autosomal dominant omodysplasia and FRIZZLED2 mutations Autor Warren, Hannah E., Louie, Raymond J., Friez, Michael J., Frías, Jaime L., Leroy, Jules G., Spranger, Jürgen W., Skinner, Steven A., Champaigne, Neena L.

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Vitamin D Deficiency is Prevalent in Females with Rett Syndrome Autor Motil, Kathleen J., Barrish, Judy O., Lane, Jane, Geerts, Suzanne P., Annese, Fran, McNair, Lauren, Percy, Alan K., Skinner, Steven A, Neul, Jeffrey L., Glaze, Daniel G.

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

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Biliary Tract Disease in Girls and Young Women with Rett Syndrome Autor Motil, Kathleen J., Lane, Jane B., Barrish, Judy O., Annese, Fran, Geerts, Suzanne, McNair, Lauren, Skinner, Steven A., Neul, Jeffrey L., Glaze, Daniel G., Percy, Alan K.

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

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Loss of MeCP2 Causes Urological Dysfunction and Contributes to Death by Kidney Failure in Mouse Models of Rett Syndrome Autor Ward, Christopher S., Huang, Teng-Wei, Herrera, José A., Samaco, Rodney C., Pitcher, Meagan R., Herron, Alan, Skinner, Steven A., Kaufmann, Walter E., Glaze, Daniel G., Percy, Alan K., Neul, Jeffrey L.

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

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

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

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

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Growth failure and outcome in Rett syndrome: Specific growth references Autor Tarquinio, Daniel Charles, Motil, Kathleen J., Hou, Wei, Lee, Hye-Seung, Glaze, Daniel G., Skinner, Steven A., Neul, Jeff L., Annese, Fran, McNair, Lauren, Barrish, Judy O., Geerts, Suzanne P., Lane, Jane B., Percy, Alan K.

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

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

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Anthropometric Measures Correspond with Functional Motor Outcomes in Females with Rett Syndrome Autor Motil, Kathleen J., Geerts, Suzanne, Annese, Fran, Neul, Jeffrey L., Benke, Tim, Marsh, Eric, Lieberman, David, Skinner, Steven A., Glaze, Daniel G., Heydemann, Peter, Beisang, Arthur, Standridge, Shannon, Ryther, Robin, Lane, Jane B., Edwards, Lloyd, Percy, Alan K.

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Methyl-CpG-binding protein 2 (MEPC2) mutation type is associated with disease severity in Rett Syndrome Autor Cuddapah, Vishnu Anand, Pillai, Rajesh B, Shekar, Kiran V, Lane, Jane B, Motil, Kathleen J, Skinner, Steven A, Tarquinio, Daniel Charles, Glaze, Daniel G, McGwin, Gerald, Kaufmann, Walter E, Percy, Alan K, Neul, Jeffrey L, Olsen, Michelle L

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