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Response to Letter to the Editor by Palffy and Ghaziuddin.
Santoro SL, Baumer NT, Cornacchia M, Franklin C, Hart SJ, Haugen K, Hojlo MA, Horick N, Kishnani PS, Krell K, McCormick A, Milliken AL, Oreskovic NM, Pawlowski KG, Sargado S, Torres A, Valentini D, Vellody K, Skotko BG. Santoro SL, et al. Among authors: kishnani ps. Am J Med Genet A. 2023 May;191(5):1470-1473. doi: 10.1002/ajmg.a.63116. Epub 2023 Jan 6. Am J Med Genet A. 2023. PMID: 36609854 No abstract available.
National down syndrome patient database: Insights from the development of a multi-center registry study.
Lavigne J, Sharr C, Ozonoff A, Prock LA, Baumer N, Brasington C, Cannon S, Crissman B, Davidson E, Florez JC, Kishnani P, Lombardo A, Lyerly J, McCannon JB, McDonough ME, Schwartz A, Berrier KL, Sparks S, Stock-Guild K, Toler TL, Vellody K, Voelz L, Skotko BG. Lavigne J, et al. Am J Med Genet A. 2015 Nov;167A(11):2520-6. doi: 10.1002/ajmg.a.37267. Epub 2015 Aug 6. Am J Med Genet A. 2015. PMID: 26249752
Death from supine asphyxia in late onset pompe disease: Two patients.
Kansagra S, Austin S, DeArmey S, Koeberl D, Kishnani PS. Kansagra S, et al. Among authors: kishnani ps. Am J Med Genet A. 2016 Jul;170(7):1928-9. doi: 10.1002/ajmg.a.37687. Epub 2016 May 4. Am J Med Genet A. 2016. PMID: 27145023 No abstract available.
Detecting celiac disease in patients with Down syndrome.
Sharr C, Lavigne J, Elsharkawi IM, Ozonoff A, Baumer N, Brasington C, Cannon S, Crissman B, Davidson E, Florez JC, Kishnani P, Lombardo A, Lyerly J, McDonough ME, Schwartz A, Berrier KL, Sparks S, Stock-Guild K, Toler TL, Vellody K, Voelz L, Skotko BG. Sharr C, et al. Am J Med Genet A. 2016 Dec;170(12):3098-3105. doi: 10.1002/ajmg.a.37879. Epub 2016 Sep 8. Am J Med Genet A. 2016. PMID: 27605215
Thyroid dysfunction in patients with Down syndrome: Results from a multi-institutional registry study.
Lavigne J, Sharr C, Elsharkawi I, Ozonoff A, Baumer N, Brasington C, Cannon S, Crissman B, Davidson E, Florez JC, Kishnani P, Lombardo A, Lyerly J, McDonough ME, Schwartz A, Berrier K, Sparks S, Stock-Guild K, Toler TL, Vellody K, Voelz L, Skotko BG. Lavigne J, et al. Am J Med Genet A. 2017 Jun;173(6):1539-1545. doi: 10.1002/ajmg.a.38219. Epub 2017 Mar 23. Am J Med Genet A. 2017. PMID: 28332275
358 results