Browsing by Author "Shuldiner, Alan R."
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Item Clinical case study meets population cohort : Identification of a BRCA1 pathogenic founder variant in Orcadians(2023-05) Kerr, Shona M.; Cowan, Emma; Klaric, Lucija; Bell, Christine; O'Sullivan, Dawn; Buchanan, David; Grzymsk, Joseph J.; van Hout, Cristopher V.; Tzoneva, Gannie; Shuldiner, Alan R.; Wilson, James F; Miedzybrodzka, Zosia; University of Aberdeen.Applied Medicine; University of Aberdeen.Centre for Health Data Science; University of Aberdeen.Institute of Medical SciencesItem Two founder variants account for over 90% of pathogenic BRCA alleles in the Orkney and Shetland Isles in Scotland(2024-12) Kerr, Shona M.; Klaric, Lucija; Muckian, Marisa D.; Cowan, Emma; Snadden, Lesley; Tzoneva, Gannie; Shuldiner, Alan R.; Miedzybrodzka, Zosia; Wilson, James F.; University of Aberdeen.Applied Medicine; University of Aberdeen.Molecular and Cellular Function; University of Aberdeen.Aberdeen Cancer Centre; University of Aberdeen.Medical Sciences; University of Aberdeen.Institute of Medical Sciences; University of Aberdeen.Medical Genetics Group