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Recurrent trisomy 21: four cases in three generations.
Gair JL, Arbour L, Rupps R, Jiang R, Bruyère H, Robinson WP. Gair JL, et al. Among authors: arbour l. Clin Genet. 2005 Nov;68(5):430-5. doi: 10.1111/j.1399-0004.2005.00512.x. Clin Genet. 2005. PMID: 16207210
Long QT syndrome.
Jackson H, Huisman LA, Sanatani S, Arbour LT. Jackson H, et al. CMAJ. 2011 Aug 9;183(11):1272-5. doi: 10.1503/cmaj.100138. Epub 2011 Apr 11. CMAJ. 2011. PMID: 21482651 Free PMC article. No abstract available.
Beckwith-Wiedemann syndrome in sibs discordant for IC2 methylation.
Niederhoffer KY, Peñaherrera M, Pugash D, Rupps R, Arbour L, Tessier F, Choufani S, Zhao C, Manokhina I, Shuman C, Robinson WP, Weksberg R, Boerkoel CF. Niederhoffer KY, et al. Among authors: arbour l. Am J Med Genet A. 2012 Jul;158A(7):1662-9. doi: 10.1002/ajmg.a.35377. Epub 2012 May 21. Am J Med Genet A. 2012. PMID: 22615066
145 results