نتائج البحث - Skinner, Steven A.
- يعرض 1 - 20 نتائج من 43
- اذهب إلى الاصفحة التالية
-
1
-
2
-
3
-
4
Clinical findings from the landmark MEF2C ‐related disorders natural history study حسب Cooley Coleman, Jessica A., Sarasua, Sara M., Moore, Hannah Warren, Boccuto, Luigi, Cowan, Christopher W., Skinner, Steven A., DeLuca, Jane M.
منشور في 2022نص -
5
Metabolic Signatures Differentiate Rett Syndrome From Unaffected Siblings حسب Neul, Jeffrey L., Skinner, Steven A., Annese, Fran, Lane, Jane, Heydemann, Peter, Jones, Mary, Kaufmann, Walter E., Glaze, Daniel G., Percy, Alan K.
منشور في 2020نص -
6
Two unrelated patients with autosomal dominant omodysplasia and FRIZZLED2 mutations حسب Warren, Hannah E., Louie, Raymond J., Friez, Michael J., Frías, Jaime L., Leroy, Jules G., Spranger, Jürgen W., Skinner, Steven A., Champaigne, Neena L.
منشور في 2018نص -
7
Vitamin D Deficiency is Prevalent in Females with Rett Syndrome حسب 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.
منشور في 2011نص -
8
Longitudinal course of epilepsy in Rett syndrome and related disorders حسب 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
منشور في 2017نص -
9
Biliary Tract Disease in Girls and Young Women with Rett Syndrome حسب 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.
منشور في 2019نص -
10
Pubertal Development in Rett Syndrome Deviates from Typical Females حسب 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.
منشور في 2014نص -
11
Loss of MeCP2 Causes Urological Dysfunction and Contributes to Death by Kidney Failure in Mouse Models of Rett Syndrome حسب 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.
منشور في 2016نص -
12
Gastrointestinal and Nutritional Problems Occur Frequently Throughout Life in Girls and Women with Rett Syndrome حسب 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.
منشور في 2012نص -
13
Profiling Scoliosis in Rett Syndrome حسب 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.
منشور في 2010نص -
14
Rett syndrome diagnostic criteria: Lessons from the Natural History Study حسب 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
منشور في 2010نص -
15
The course of awake breathing disturbances across the lifespan in Rett syndrome حسب 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.
منشور في 2018نص -
16
Growth failure and outcome in Rett syndrome: Specific growth references حسب 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.
منشور في 2012نص -
17
Developmental delay in Rett syndrome: data from the natural history study حسب 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
منشور في 2014نص -
18
Enrichment of mutations in chromatin regulators in people with Rett Syndrome lacking mutations in MECP2 حسب 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.
منشور في 2016نص -
19
Anthropometric Measures Correspond with Functional Motor Outcomes in Females with Rett Syndrome حسب 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.
منشور في 2022نص -
20
Methyl-CpG-binding protein 2 (MEPC2) mutation type is associated with disease severity in Rett Syndrome حسب 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
منشور في 2014نص