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Item 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 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 Help or hindrance : young people's experiences of predictive testing for Huntington's disease(2015-06) Keenan, Karen; McKee, Lorna; Miedzybrodzka, Zosia; University of Aberdeen.Other Applied Health Sciences; University of Aberdeen.Aberdeen Centre for Evaluation; University of Aberdeen.Epidemiology Group; University of Aberdeen.Institute of Applied Health Sciences; University of Aberdeen.Business Management; University of Aberdeen.Applied Medicine; University of Aberdeen.Grampian Data Safe Haven (DaSH)Item Full UPF3B function is critical for neuronal differentiation of neural stem cells(2015-05-27) Alrahbeni, Tahani; Sartor, Francesca; Anderson, Jihan; Miedzybrodzka, Zosia; McCaig, Colin; Muller, Berndt; University of Aberdeen.Medical Sciences; University of Aberdeen.Applied Medicine; University of Aberdeen.Grampian Data Safe Haven (DaSH)Item The Angelina Jolie effect : how high celebrity profile can have a major impact on provision of cancer related services(2014-09-19) Evans, D Gareth R; Barwell, Julian; Eccles, Diana M; Collins, Amanda; Izatt, Louise; Jacobs, Chris; Donaldson, Alan; Brady, Angela F; Cuthbert, Andrew; Harrison, Rachel; Thomas, Sue; Howell, Anthony; Miedzybrodzka, Zosia; Murray, Alex; The FH02 Study Group; University of Aberdeen.Applied Medicine; University of Aberdeen.Grampian Data Safe Haven (DaSH)Item Is there evidence for aetiologically distinct subgroups of idiopathic congenital talipes equinovarus? : A case-only study and pedigree analysis(2011-04) Cardy, Amanda H; Sharp, Linda; Torrance, Nicola; Hennekam, Raoul C; Miedzybrodzka, Zosia; University of Aberdeen.Other Applied Health Sciences; University of Aberdeen.Medical Sciences; University of Aberdeen.Applied MedicineItem 3D MRI analysis of the lower legs of treated idiopathic congenital talipes equinovarus (clubfoot)(2013-01-30) Duce, Suzanne L; D'Alessandro, Mariella; Du, Yimeng; Jagpal, Baljit; Gilbert, Fiona J; Crichton, Lena; Barker, Simon; Collinson, J Martin; Miedzybrodzka, Zosia; University of Aberdeen.Applied Medicine; University of Aberdeen.Medical Sciences; University of Aberdeen.Grampian Data Safe Haven (DaSH)Item Protocol for stage 2 of the GaP study (genetic testing acceptability for Paget's disease of bone) : a questionnaire study to investigate whether relatives of people with Paget's disease would accept genetic testing and preventive treatment if they were available(2008-05-29) Langston, Anne L; Johnston, Marie; Francis, Jill; Robertson, Clare; Campbell, Marion K; Entwistle, Vikki A; Marteau, Theresa; Maclennan, Graeme; Weinman, John; McCallum, Marilyn; Miedzybrodska, Zosia; Charnock, Keith; Ralston, Stuart H; Miedzybrodzka, Zosia; University of Aberdeen.Other Applied Health Sciences; University of Aberdeen.Institute of Applied Health Sciences; University of Aberdeen.Aberdeen Centre for Evaluation; University of Aberdeen.Applied Medicine