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141 results

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Page 1
Evaluating Sleep Disturbances in Children With Rare Genetic Neurodevelopmental Syndromes.
Veatch OJ, Malow BA, Lee HS, Knight A, Barrish JO, Neul JL, Lane JB, Skinner SA, Kaufmann WE, Miller JL, Driscoll DJ, Bird LM, Butler MG, Dykens EM, Gold JA, Kimonis V, Bacino CA, Tan WH, Kothare SV, Peters SU, Percy AK, Glaze DG. Veatch OJ, et al. Among authors: skinner sa. Pediatr Neurol. 2021 Oct;123:30-37. doi: 10.1016/j.pediatrneurol.2021.07.009. Epub 2021 Jul 24. Pediatr Neurol. 2021. PMID: 34388423 Free PMC article.
Rett syndrome: North American database.
Percy AK, Lane JB, Childers J, Skinner S, Annese F, Barrish J, Caeg E, Glaze DG, MacLeod P. Percy AK, et al. J Child Neurol. 2007 Dec;22(12):1338-41. doi: 10.1177/0883073807308715. J Child Neurol. 2007. PMID: 18174548
Longevity in Rett syndrome: analysis of the North American Database.
Kirby RS, Lane JB, Childers J, Skinner SA, Annese F, Barrish JO, Glaze DG, Macleod P, Percy AK. Kirby RS, et al. Among authors: skinner sa. J Pediatr. 2010 Jan;156(1):135-138.e1. doi: 10.1016/j.jpeds.2009.07.015. J Pediatr. 2010. PMID: 19772971 Free PMC article.
Profiling scoliosis in Rett syndrome.
Percy AK, Lee HS, Neul JL, Lane JB, Skinner SA, Geerts SP, Annese F, Graham J, McNair L, Motil KJ, Barrish JO, Glaze DG. Percy AK, et al. Among authors: skinner sa. Pediatr Res. 2010 Apr;67(4):435-9. doi: 10.1203/PDR.0b013e3181d0187f. Pediatr Res. 2010. PMID: 20032810 Free PMC article.
Epilepsy and the natural history of Rett syndrome.
Glaze DG, Percy AK, Skinner S, Motil KJ, Neul JL, Barrish JO, Lane JB, Geerts SP, Annese F, Graham J, McNair L, Lee HS. Glaze DG, et al. Neurology. 2010 Mar 16;74(11):909-12. doi: 10.1212/WNL.0b013e3181d6b852. Neurology. 2010. PMID: 20231667 Free PMC article.
A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations.
Gentile JK, Tan WH, Horowitz LT, Bacino CA, Skinner SA, Barbieri-Welge R, Bauer-Carlin A, Beaudet AL, Bichell TJ, Lee HS, Sahoo T, Waisbren SE, Bird LM, Peters SU. Gentile JK, et al. Among authors: skinner sa. J Dev Behav Pediatr. 2010 Sep;31(7):592-601. doi: 10.1097/DBP.0b013e3181ee408e. J Dev Behav Pediatr. 2010. PMID: 20729760 Free PMC article.
Rett syndrome diagnostic criteria: lessons from the Natural History Study.
Percy AK, Neul JL, Glaze DG, Motil KJ, Skinner SA, Khwaja O, Lee HS, Lane JB, Barrish JO, Annese F, McNair L, Graham J, Barnes K. Percy AK, et al. Among authors: skinner sa. Ann Neurol. 2010 Dec;68(6):951-5. doi: 10.1002/ana.22154. Ann Neurol. 2010. PMID: 21104896 Free PMC article.
Rett syndrome: revised diagnostic criteria and nomenclature.
Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, Leonard H, Bailey ME, Schanen NC, Zappella M, Renieri A, Huppke P, Percy AK; RettSearch Consortium. Neul JL, et al. Ann Neurol. 2010 Dec;68(6):944-50. doi: 10.1002/ana.22124. Ann Neurol. 2010. PMID: 21154482 Free PMC article.
Angelman syndrome: Mutations influence features in early childhood.
Tan WH, Bacino CA, Skinner SA, Anselm I, Barbieri-Welge R, Bauer-Carlin A, Beaudet AL, Bichell TJ, Gentile JK, Glaze DG, Horowitz LT, Kothare SV, Lee HS, Nespeca MP, Peters SU, Sahoo T, Sarco D, Waisbren SE, Bird LM. Tan WH, et al. Among authors: skinner sa. Am J Med Genet A. 2011 Jan;155A(1):81-90. doi: 10.1002/ajmg.a.33775. Am J Med Genet A. 2011. PMID: 21204213 Free PMC article.
141 results