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Issue DateTitleAuthor(s)
2021-08Genetic testing in dementia-A medical genetics perspective.Huq, AJ; Sexton, A; Lacaze, P; Masters, CL; Storey, E; Velakoulis, D; James, PA; Winship, IM
2021-11A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study.Bancroft, EK; Page, EC; Brook, MN; Thomas, S; Taylor, N; Pope, J; McHugh, J; Jones, A-B; Karlsson, Q; Merson, S; Ong, KR; Hoffman, J; Huber, C; Maehle, L; Grindedal, EM; Stormorken, A; Evans, DG; Rothwell, J; Lalloo, F; Brady, AF; Bartlett, M; Snape, K; Hanson, H; James, P; McKinley, J; Mascarenhas, L; Syngal, S; Ukaegbu, C; Side, L; Thomas, T; Barwell, J; Teixeira, MR; Izatt, L; Suri, M; Macrae, FA; Poplawski, N; Chen-Shtoyerman, R; Ahmed, M; Musgrave, H; Nicolai, N; Greenhalgh, L; Brewer, C; Pachter, N; Spigelman, AD; Azzabi, A; Helfand, BT; Halliday, D; Buys, S; Ramon Y Cajal, T; Donaldson, A; Cooney, KA; Harris, M; McGrath, J; Davidson, R; Taylor, A; Cooke, P; Myhill, K; Hogben, M; Aaronson, NK; Ardern-Jones, A; Bangma, CH; Castro, E; Dearnaley, D; Dias, A; Dudderidge, T; Eccles, DM; Green, K; Eyfjord, J; Falconer, A; Foster, CS; Gronberg, H; Hamdy, FC; Johannsson, O; Khoo, V; Lilja, H; Lindeman, GJ; Lubinski, J; Axcrona, K; Mikropoulos, C; Mitra, AV; Moynihan, C; Ni Raghallaigh, H; Rennert, G; Collier, R; IMPACT Study Collaborators,; Offman, J; Kote-Jarai, Z; Eeles, RA
2019-10Living with Hereditary Haemorrhagic Telangiectasia: stigma, coping with unpredictable symptoms, and self-advocacy.Sexton, A; Gargan, B; Taylor, J; Bogwitz, M; Winship, I
2021-05-30Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16.Pakdaman, Y; Berland, S; Bustad, HJ; Erdal, S; Thompson, BA; James, PA; Power, KN; Ellingsen, S; Krooni, M; Berge, LI; Sexton, A; Bindoff, LA; Knappskog, PM; Johansson, S; Aukrust, I
2021-05Engagement and return of results preferences among a primarily African American genomic sequencing research cohort.Lewis, KL; Turbitt, E; Chan, PA; Epps, S; Biesecker, BB; Erby, LAH; Fasaye, G-A; Biesecker, LG
2021-01-15The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective.Eratne, D; Schneider, A; Lynch, E; Martyn, M; Velakoulis, D; Fahey, M; Kwan, P; Leventer, R; Rafehi, H; Chong, B; Stark, Z; Lunke, S; Phelan, DG; O'Keefe, M; Siemering, K; West, K; Sexton, A; Jarmolowicz, A; Taylor, JA; Schultz, J; Purvis, R; Uebergang, E; Chalinor, H; Creighton, B; Gelfand, N; Saks, T; Prawer, Y; Smagarinsky, Y; Pan, T; Goranitis, I; Ademi, Z; Gaff, C; Huq, A; Walsh, M; James, PA; Krzesinski, EI; Wallis, M; Stutterd, CA; Bahlo, M; Delatycki, MB; Berkovic, SF
2017-09Defining personal utility in genomics: A Delphi study.Kohler, JN; Turbitt, E; Lewis, KL; Wilfond, BS; Jamal, L; Peay, HL; Biesecker, LG; Biesecker, BB
2017-02A Pilot Randomized Controlled Trial of the Feasibility, Acceptability, and Impact of Giving Information on Personalized Genomic Risk of Melanoma to the Public.Smit, AK; Espinoza, D; Newson, AJ; Morton, RL; Fenton, G; Freeman, L; Dunlop, K; Butow, PN; Law, MH; Kimlin, MG; Keogh, LA; Dobbinson, SJ; Kirk, J; Kanetsky, PA; Mann, GJ; Cust, AE
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