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pro vyhledávání: '"R. Tredwell"'
Akademický článek
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Autor:
Lucy Loong, Cankut Cubuk, Subin Choi, Sophie Allen, Beth Torr, Alice Garrett, Chey Loveday, Miranda Durkie, Alison Callaway, George J. Burghel, James Drummond, Rachel Robinson, Ian R. Berry, Andrew Wallace, Diana M. Eccles, Marc Tischkowitz, Sian Ellard, James S. Ware, Helen Hanson, Clare Turnbull, S. Samant, A. Lucassen, A. Znaczko, A. Shaw, A. Ansari, A. Kumar, A. Donaldson, A. Murray, A. Ross, A. Taylor-Beadling, A. Taylor, A. Innes, A. Brady, A. Kulkarni, A.-C. Hogg, A. Ramsay Bowden, A. Hadonou, B. Coad, B. McIldowie, B. Speight, B. DeSouza, B. Mullaney, C. McKenna, C. Brewer, C. Olimpio, C. Clabby, C. Crosby, C. Jenkins, C. Armstrong, C. Bowles, C. Brooks, C. Byrne, C. Maurer, D. Baralle, D. Chubb, D. Stobo, D. Moore, D. O'Sullivan, D. Donnelly, D. Randhawa, D. Halliday, E. Atkinson, E. Baple, E. Rauter, E. Johnston, E. Woodward, E. Maher, E. Sofianopoulou, E. Petrides, F. Lalloo, F. McRonald, F. Pelz, I. Frayling, G. Evans, G. Corbett, G. Rea, H. Clouston, H. Powell, H. Williamson, H. Carley, H.J.W. Thomas, I. Tomlinson, J. Cook, J. Hoyle, J. Tellez, J. Whitworth, J. Williams, J. Murray, J. Campbell, J. Tolmie, J. Field, J. Mason, J. Burn, J. Bruty, J. Callaway, J. Grant, J. Del Rey Jimenez, J. Pagan, J. VanCampen, J. Barwell, K. Monahan, K. Tatton-Brown, K.-R. Ong, K. Murphy, K. Andrews, K. Mokretar, K. Cadoo, K. Smith, K. Baker, K. Brown, K. Reay, K. McKay Bounford, K. Bradshaw, K. Russell, K. Stone, K. Snape, L. Crookes, L. Reed, L. Taggart, L. Yarram, L. Cobbold, L. Walker, L. Hawkes, L. Busby, L. Izatt, L. Kiely, L. Hughes, L. Side, L. Sarkies, K.-L. Greenhalgh, M. Shanmugasundaram, M. Duff, M. Bartlett, M. Watson, M. Owens, M. Bradford, M. Huxley, M. Slean, M. Ryten, M. Smith, M. Ahmed, N. Roberts, C. O'Brien, O. Middleton, P. Tarpey, P. Logan, P. Dean, P. May, P. Brace, R. Tredwell, R. Harrison, R. Hart, R. Kirk, R. Martin, R. Nyanhete, R. Wright, R. Davidson, R. Cleaver, S. Talukdar, S. Butler, J. Sampson, S. Ribeiro, S. Dell, S. Mackenzie, S. Hegarty, S. Albaba, S. McKee, S. Palmer-Smith, S. Heggarty, S. MacParland, S. Greville-Heygate, S. Daniels, S. Prapa, S. Abbs, S. Tennant, S. Hardy, S. MacMahon, T. McVeigh, T. Foo, T. Bedenham, T. Cranston, T. McDevitt, V. Clowes, V. Tripathi, V. McConnell, N. Woodwaer, Y. Wallis, Z. Kemp, G. Mullan, L. Pierson, L. Rainey, C. Joyce, A. Timbs, A.-M. Reuther, B. Frugtniet, C. Husher, C. Lawn, C. Corbett, D. Nocera-Jijon, D. Reay, E. Cross, F. Ryan, H. Lindsay, J. Oliver, J. Dring, J. Spiers, J. Harper, K. Ciucias, L. Connolly, M. Tsang, R. Brown, S. Shepherd, S. Begum, T. Tadiso, T. Linton-Willoughby, H. Heppell, K. Sahan, L. Worrillow, Z. Allen, M. Barlett, C. Watt, M. Hegarty
Publikováno v:
Loong, L, Cubuk, C, Choi, S, Allen, S, Torr, B, Garrett, A, Loveday, C, Durkie, M, Callaway, A, Burghel, GJ, Drummond, J, Robinson, R, Berry, IR, Wallace, A & CanVIG-UK 2021, ' Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants. ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 24, no. 3, pp. 552-563 . https://doi.org/10.1016/j.gim.2021.11.011
Purpose: Conditions and thresholds applied for evidence weighting of within-codon concordance (PM5) for pathogenicity vary widely between laboratories and expert groups. Because of the sparseness of available clinical classifications, there is little
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a638418e559b935daf78b3ef4e1f05a
http://hdl.handle.net/10044/1/95227
http://hdl.handle.net/10044/1/95227
Akademický článek
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Autor:
M S, Johnson, R, Tredwell
Publikováno v:
Emergency medical services. 20(8)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a770c1b62bf1be9cd13b9cc9b5fbcf9b
https://pubmed.ncbi.nlm.nih.gov/10112550
https://pubmed.ncbi.nlm.nih.gov/10112550
Autor:
S. Z., Dao1 seydouzd@yahoo.fr, B. A., Traoré1, T., Traoré2, S., Konaté1, E., Togo1, K., Sidibé2, A., Coulibaly3, C., Sylla4, M., Haïdara5, A. B., Dembélé1, Y., Traoré4, Dolo, A.6
Publikováno v:
Mali Médical. 2023, Vol. 38 Issue 1, p31-34. 4p.
Autor:
Zhang, Bing1,2,3,4 (AUTHOR), Zhang, Ying1,2,3 (AUTHOR), Dang, Wenli1,2,3 (AUTHOR), Xing, Bin1,2,3 (AUTHOR), Yu, Changxiang1,2,3 (AUTHOR), Guo, Pan1,2,3 (AUTHOR), Pi, Jiaxin1,2,3 (AUTHOR), Deng, Xiuping1,2,3 (AUTHOR), Qi, Dongli1,2,3 (AUTHOR) qidongli@tjutcm.edu.cn, Liu, Zhidong1,2,3 (AUTHOR) liuzhidong@tjutcm.edu.cn
Publikováno v:
Journal of Nanobiotechnology. 9/24/2022, Vol. 20 Issue 1, p1-20. 20p.
Autor:
Lakstīgala, Ineta1 inetalakstigala@inbox.lv
Publikováno v:
Proceedings of the International Scientific Conference of Daugavpils University / Daugavpils Universitates Starptautiskas Zinatniskas Konferences Materiali. 2022, Issue 64, p73-85. 13p.
Autor:
Jinna, Nikita1 (AUTHOR), Rida, Padmashree2 (AUTHOR), Smart, Max2 (AUTHOR), LaBarge, Mark1 (AUTHOR), Jovanovic-Talisman, Tijana3 (AUTHOR), Natarajan, Rama4 (AUTHOR), Seewaldt, Victoria1 (AUTHOR) vseewaldt@coh.org
Publikováno v:
International Journal of Molecular Sciences. Aug2022, Vol. 23 Issue 16, p8844-N.PAG. 19p.
Autor:
Garrett A; Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK; St George's University Hospitals NHS Foundation Trust, Tooting, London, UK., Allen S; Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK., Durkie M; Sheffield Diagnostic Genetics Service, NEY Genomic Laboratory Hub, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Burghel GJ; Manchester Centre for Genomic Medicine and NW Laboratory Genetics Hub, Manchester University Hospitals NHS Foundation Trust, Manchester, UK., Robinson R; The Leeds Genetics Laboratory, NEY Genomic Laboratory Hub, Leeds Teaching Hospitals NHS Trust, Leeds, UK., Callaway A; Central and South Genomics Laboratory Hub, Wessex Genomics Laboratory Service, University Hospital Southampton NHS Foundation Trust, Salisbury, UK., Field J; Genomics and Molecular Medicine Service, Nottingham University Hospitals NHS Trust, Nottingham, UK., Frugtniet B; St George's University Hospitals NHS Foundation Trust, Tooting, London, UK., Palmer-Smith S; Institute of Medical Genetics, University Hospital of Wales, Cardiff and Vale University Health Board, Cardiff, UK., Grant J; Laboratory Genetics, Queen Elizabeth University Hospital, NHS Greater Glasgow and Clyde, Glasgow, UK., Pagan J; South East Scotland Clinical Genetics, Western General Hospital, Edinburgh, UK., McDevitt T; Department of Clinical Genetics, CHI at Crumlin, Dublin, Ireland., Rowlands CF; Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK., McVeigh T; The Royal Marsden NHS Foundation Trust, Fulham Road, London., Hanson H; Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK; Peninsula Regional Genetics Service, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK; Faculty of Health and Life Sciences, University of Exeter, Exeter, UK., Turnbull C; Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK; The Royal Marsden NHS Foundation Trust, Fulham Road, London. Electronic address: Turnbull.lab@icr.ac.uk.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Oct 24, pp. 101305. Date of Electronic Publication: 2024 Oct 24.
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