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Item 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 GroupItem Outcomes of patients with Juvenile Polyposis-Hereditary Haemorrhagic Telangiectasia caused by pathogenic SMAD4 variants in a pan-Scotland cohort(2024-06) Pearson, Madeline; McGowan, Ruth; Greene, Philip; Lam, Wayne; Miedzybrodzka, Zofia; Berg, Jonathan; University of Aberdeen.Applied MedicineItem Response to anti-IL17 therapy in inflammatory disease is not strongly impacted by genetic background(2023-10-05) Zhang, Cong; Shestopaloff, Konstantin; Hollis, Benjamin; Hei Kwok, Chun; Hon, Claudia; Hartmann, Nicole; Tian, Chengeng; Wozniak, Magdalena B; Santos, Luis; West, Dominique M; Gardiner, Stephen; Mallon, Ann-Marie; Readie, Aimee; Martin, Ruvie; Nichols, Thomas; Beste, Michael T; Zierer, Jonas; Ferrero, Enrico; Vandemeulebroecke, Marc; Jostins-Dean, Luke; University of Aberdeen.Other Applied Health SciencesItem Association of SMAD7 genetic markers and haplotypes with colorectal cancer risk(2022-12) Alidoust, Maryam; Hamzehzadeh, Leila; Khorshid Shamshiri, Asma; Afzaljavan, Fahimeh; Kerachian, Mohammad Amin; Fanipakdel, Azar; Aledavood, Seyed Amir; Allahyari, Abolghasem; Bari, Alireza; Moosanen Mozaffari, Hooman; Goshayeshi, Ladan; Pasdar, Alireza; University of Aberdeen.Applied MedicineItem Genetic contribution of caspase-8 variants and haplotypes to breast cancer risk and prognosis : a case-control study in Iran(2023-04-04) Afzaljavan, Fahimeh; Vahednia, Elham; Barati Bagherabad, Matineh; Vakili, Fatemeh; Moezzi, Atefeh; Hosseini, Azar; Homaei Shandiz, Fatemeh; Kooshyar, Mohammad Mahdi; Nassiri, Mohammadreza; Pasdar, Alireza; University of Aberdeen.Applied MedicineItem Association between the rs2241883 polymorphism of the fatty acid-binding protein-1 (FABP1) gene and obesity in a population of MASHAD study cohort(2023-07) Valizadeh, Mohsen; Aghasizadeh, Malihe; Shaghi, Fatemeh; Moradi, Ali; Afshari, Haleh S.T.; Zare-Feyzabadi, Reza; Saberi-Karimian, Maryam; Hashemi, Mohammad; Doust, Fatemeh N.S.; Nematy, Mohsen; Bahre, Ensieh A.; Aghaei-Bakhtiari, Seyed H.; Ghazizadeh, Hamideh; Safarian-Bana, Hamideh; Shabani, Niloofar; Esmaily, Habibollah; Ferns, Gordon A.; Pasdar, Alireza; Ghayour-Mobarhan, Majid; University of Aberdeen.Applied MedicineItem Genetic, Epigenetic and Environmental Factors Influence the Phenotype of Tooth Number, Size and Shape : Anterior Maxillary Supernumeraries and the Morphology of Mandibular Incisors(2022-12) Khalaf, Khaled; Brook, Alan Henry; Smith, Richard Nigel; University of Aberdeen.Dental EducationItem Diagnostic accuracy of circular RNA for diabetes Mellitus : a systematic review and diagnostic Meta-analysis(2023-03-08) Dehghanbanadaki, Hojat; Asili, Pooria; Haji Ghadery, Abdolkarim; Mirahmad, Maryam; Dehnavi, Ali Zare; Parsaei, Amirhossein; Baradaran, Hamid Reza; Azami, Mobin; Jose Justo da Silva, Gustavo; Parvan, Reza; Moradi, Yousef; University of Aberdeen.Ageing Clinical & Experimental Research Team; University of Aberdeen.Other Applied Health SciencesItem Mendel's laws of heredity on his 200th birthday : What have we learned by considering exceptions?(2022-07-01) Wolf, Jason B; Ferguson-Smith, Anne C; Lorenz, Alexander; University of Aberdeen.Medical Sciences; University of Aberdeen.Institute of Medical SciencesItem Cell-free DNA screening for rare autosomal trisomies and segmental chromosome imbalances(2022-10-18) Raymond, Yvette C.; Fernando, Shavi; Menezes, Melody; Meagher, Simon; Mol, Ben W.; McLennan, Andrew; Scott, Fergus; Mizia, Karen; Carey, Karen; Fleming, Gabrielle; Rolnik, Daniel Lorber; University of Aberdeen.Other Applied Health Sciences; University of Aberdeen.Aberdeen Centre for Women’s Health Research