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An actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort
(2019-07-29) Kerr, Shona M.; Klaric, Lucija; Halachev, Mihail; Hayward, Caroline; Boutin, Thibaud S.; Meynert, Alison M.; Semple, Colin A.; Tuiskula, Annukka M.; Swan, Heikki; Santoyo-Lopez, Javier; Vitart, Veronique; Haley, Chris; Dean, John; Miedzybrodzka, Zosia; Aitman, Timothy J.; Wilson, James F.; University of Aberdeen.Applied Medicine; University of Aberdeen.Grampian Data Safe Haven (DaSH)
A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing
(2015) Constantinou, Panayiotis; Lochhead, Paul; D'Allesandro, Mariella; Samant, Shalaka; Deciphering Developmental Disorders Study; Dean, John; Hauptfleisch, Catherine; University of Aberdeen.Applied Medicine; University of Aberdeen.Other Applied Health Sciences