检索结果 - Skinner, Steven A

Neurobiologically-based treatments in Rett syndrome: opportunities and challenges 由 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 由 Percy, Alan K., Lane, Jane, Annese, Fran, Warren, Hannah, Skinner, Steven A., Neul, Jeffrey L.

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Tremors: A concept analysis 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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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