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145 results

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A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome.
Bird LM, Tan WH, Bacino CA, Peters SU, Skinner SA, Anselm I, Barbieri-Welge R, Bauer-Carlin A, Gentile JK, Glaze DG, Horowitz LT, Mohan KN, Nespeca MP, Sahoo T, Sarco D, Waisbren SE, Beaudet AL. Bird LM, et al. Among authors: skinner sa. Am J Med Genet A. 2011 Dec;155A(12):2956-63. doi: 10.1002/ajmg.a.34297. Epub 2011 Oct 14. Am J Med Genet A. 2011. PMID: 22002941 Free PMC article. Clinical Trial.
Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders.
Ben-Shachar S, Lanpher B, German JR, Qasaymeh M, Potocki L, Nagamani SC, Franco LM, Malphrus A, Bottenfield GW, Spence JE, Amato S, Rousseau JA, Moghaddam B, Skinner C, Skinner SA, Bernes S, Armstrong N, Shinawi M, Stankiewicz P, Patel A, Cheung SW, Lupski JR, Beaudet AL, Sahoo T. Ben-Shachar S, et al. Among authors: skinner sa, skinner c. J Med Genet. 2009 Jun;46(6):382-8. doi: 10.1136/jmg.2008.064378. Epub 2009 Mar 15. J Med Genet. 2009. PMID: 19289393 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.
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.
Vitamin D deficiency is prevalent in girls and women with Rett syndrome.
Motil KJ, Barrish JO, Lane J, Geerts SP, Annese F, McNair L, Percy AK, Skinner SA, Neul JL, Glaze DG. Motil KJ, et al. Among authors: skinner sa. J Pediatr Gastroenterol Nutr. 2011 Nov;53(5):569-74. doi: 10.1097/MPG.0b013e3182267a66. J Pediatr Gastroenterol Nutr. 2011. PMID: 21637127 Free PMC article.
145 results