-
1
المؤلفون: 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
المساهمون: British Heart Foundation, Wellcome Trust
المصدر: 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.2021.11.011Test
مصطلحات موضوعية: Concordance, Mutation, Missense, Biology, PM5, CanVIG-UK, Humans, Missense mutation, Genetic Predisposition to Disease, Variant, Codon, Genetics (clinical), Genetics, Genetics & Heredity, 0604 Genetics, BRCA1 Protein, Genetic Variation, 1103 Clinical Sciences, Pathogenicity, Classification, MutS Homolog 2 Protein, Genetic Variation/genetics, Mutation, Missense/genetics, MSH2, ACMG, BRCA1 Protein/genetics, MutS Homolog 2 Protein/genetics
وصف الملف: text
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a638418e559b935daf78b3ef4e1f05aTest
http://hdl.handle.net/10044/1/95227Test -
2
المؤلفون: R.D. Morgan, A.R. Clamp, B. Barnes, H. Schlecht, L. Yarram-Smith, Y. Wallis, S. Morgan, M. Valganon, E. Hudson, S. McKenna, S. Sundar, S. Nicum, J.D. Brenton, R. Kristeleit, S. Banerjee, I. McNeish, J.A. Ledermann, S. Taylor, G. Evans, G.C. Jayson
المصدر: Annals of Oncology. 33:S810
مصطلحات موضوعية: Oncology, Hematology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3cdfacd332209109f586f076ba24fd89Test
https://doi.org/10.1016/j.annonc.2022.07.703Test -
3دورية أكاديمية
المؤلفون: A. Christou, S. Endo, Y. Wallis, H. Bair, M. Zeegers, J.P. McCleery
مصطلحات موضوعية: info:eu-repo/classification/ddc, autism_endo
-
4
المؤلفون: F Macdonald, Y Wallis
المصدر: Molecular Pathology. 49:M65-M73
مصطلحات موضوعية: Text mining, Colorectal cancer, business.industry, medicine, Leaders, medicine.disease, business, Bioinformatics, Pathology and Forensic Medicine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7987552313ae8d3399facdcbd1b38632Test
https://doi.org/10.1136/mp.49.2.m65Test -
5
المؤلفون: D M Eccles, Y Wallis, S McKay, D Morton, P W Lunt, F MacDonald, M Griffiths, B Sandhu, J Shea-Simonds
المصدر: Archives of disease in childhood. 77(5)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Pediatrics, Genes, APC, Adolescent, Adenomatous polyposis coli, Colorectal cancer, DNA Mutational Analysis, Colonoscopy, Disease, Familial adenomatous polyposis, Medicine, Humans, Genetic Testing, Family history, Child, Colectomy, Genetic testing, medicine.diagnostic_test, biology, business.industry, Age Factors, Cancer, Original Articles, Middle Aged, medicine.disease, digestive system diseases, Surgery, Pedigree, Phenotype, Adenomatous Polyposis Coli, Pediatrics, Perinatology and Child Health, biology.protein, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15521ad188ab7d5fd4b56c9dbfb539b8Test
https://pubmed.ncbi.nlm.nih.gov/9487968Test -
6
المؤلفون: Fiona Macdonald, Michael R. B. Keighley, Riccardo Fodde, Rob B. van der Luijt, P. M. Rindl, C. M. Mckeown, Maj Hultén, Y. Wallis, P. Meera Khan, Dion Morton
المصدر: The Lancet. 340:1035
مصطلحات موضوعية: Genetics, Mutation (genetic algorithm), medicine, General Medicine, Biology, medicine.disease, Germline, Familial adenomatous polyposis
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d35defffec7fcec79e4710cd2eb01ec6Test
https://doi.org/10.1016/0140-6736Test(92)93045-o -
7دورية
المؤلفون: G, Hardy R, C, Tselepis, J, Hoyland, Y, Wallis, P, Pretlow T, I, Talbot, A, Sanders D S, G, Matthews, D, Morton, Z, Jankowski J A
المصدر: Gut; April 2002, Vol. 50 Issue: 4 p513-9, 7p