Browsing by Author "Dean, John"
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Item Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results(2025-04-03) Kerr, Shona M; Klaric, Lucija; Muckian, Marisa D; Johnston, Kiera; Drake, Camilla; Halachev, Mihail; Cowan, Emma; Snadden, Lesley; Dean, John; Zheng, Sean L; Thami, Prisca K; Ware, James S; Tzoneva, Gannie; Shuldiner, Alan R; Miedzybrodzka, Zosia; Wilson, James F; University of Aberdeen.Medical Sciences; University of Aberdeen.Applied Medicine; University of Aberdeen.Medical Genetics Group; University of Aberdeen.Molecular and Cellular Function; University of Aberdeen.Aberdeen Cancer Centre; University of Aberdeen.Institute of Medical SciencesItem 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)Item 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 SciencesItem Parents’ views of genetic testing and treatment of familial hypercholesterolemia in children : a qualitative study(2019-01) Keenan, Karen Forrest; Finnie, Robert M.; Simpson, William G.; McKee, Lorna; Dean, John; Miedzybrodzka, Zosia; University of Aberdeen.Other Applied Health Sciences; University of Aberdeen.Institute of Applied Health Sciences; University of Aberdeen.Epidemiology Group; University of Aberdeen.Applied Medicine; University of Aberdeen.Grampian Data Safe Haven (DaSH)Item VIKING II, a worldwide observational cohort of volunteers with northern isles ancestry(2023-05-16) Kerr, Shona M.; Edwards, Rachel; Buchanan, David; Dean, John; Miedzybrodzka, Zosia; Wilson, James F.; University of Aberdeen.Medical Genetics Group; University of Aberdeen.University of Aberdeen; University of Aberdeen.Applied Medicine; University of Aberdeen.Institute of Medical Sciences