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المؤلفون: C. Loveday, A. Garrett, P. Law, S. Hanks, E. Poyastro-Pearson, J.W. Adlard, J. Barwell, J. Berg, A.F. Brady, C. Brewer, C. Chapman, J. Cook, R. Davidson, A. Donaldson, F. Douglas, L. Greenhalgh, A. Henderson, L. Izatt, A. Kumar, F. Lalloo, Z. Miedzybrodzka, P.J. Morrison, J. Paterson, M. Porteous, M.T. Rogers, L. Walker, D. Eccles, D.G. Evans, K. Snape, H. Hanson, R.S. Houlston, C. Turnbull, A. Ardern-Jones, J. Adlard, M. Ahmed, G. Attard, K. Bailey, E. Bancroft, C. Bardsley, D. Barton, M. Bartlett, L. Baxter, R. Belk, B. Bernhard, T. Bishop, L. Boyes, N. Bradshaw, S. Brant, G. Brice, G. Bromilow, C. Brooks, A. Bruce, B. Bulman, L. Burgess, J. Campbell, N. Canham, B. Castle, R. Cetnarskyj, O. Claber, N. Coates, T. Cole, A. Collins, S. Coulson, G. Crawford, D. Cruger, C. Cummings, L. D’Mello, L. Day, B. Dell, C. Dolling, H. Dorkins, S. Downing, S. Drummond, C. Dubras, J. Dunlop, S. Durrell, C. Eddy, M. Edwards, E. Edwards, J. Edwardson, R. Eeles, I. Ellis, F. Elmslie, G. Evans, B. Gibbons, C. Gardiner, N. Ghali, C. Giblin, S. Gibson, S. Goff, S. Goodman, D. Goudie, J. Grier, H. Gregory, S. Halliday, R. Hardy, C. Hartigan, T. Heaton, C. Higgins, S. Hodgson, T. Homfray, D. Horrigan, C. Houghton, L. Hughes, V. Hunt, L. Irvine, C. Jacobs, S. James, M. James, L. Jeffers, I. Jobson, W. Jones, M.J. Kennedy, S. Kenwrick, C. Kightley, C. Kirk, E. Kirk, E. Kivuva, K. Kohut, M. Kosicka-Slawinska, A. Kulkarni, N. Lambord, C. Langman, P. Leonard, S. Levene, S. Locker, P. Logan, M. Longmuir, A. Lucassen, V. Lyus, A. Magee, A. Male, S. Mansour, D. McBride, E. McCann, V. McConnell, M. McEntagart, C. McKeown, L. McLeish, D. McLeod, A. Melville, L. Mercer, C. Mercer, A. Mitra, V. Murday, A. Murray, K. Myhill, J. Myring, E. O'Hara, P. Pearson, G. Pichert, K. Platt, C. Pottinger, S. Price, L. Protheroe, S. Pugh, O. Quarrell, K. Randhawa, C. Riddick, L. Robertson, A. Robinson, V. Roffey-Johnson, M. Rogers, S. Rose, S. Rowe, A. Schofield, N. Rahman, S. Saya, G. Scott, J. Scott, A. Searle, S. Shanley, S. Sharif, A. Shaw, J. Shaw, J. Shea-Simonds, L. Side, J. Sillibourne, K. Simon, S. Simpson, S. Slater, S. Smalley, K. Smith, L. Snadden, J. Soloway, Y. Stait, B. Stayner, M. Steel, C. Steel, H. Stewart, D. Stirling, M. Thomas, S. Thomas, S. Tomkins, H. Turner, A. Vandersteen, E. Wakeling, F. Waldrup, C. Watt, S. Watts, A. Webber, C. Whyte, J. Wiggins, E. Williams, L. Winchester
المصدر: Breast and Ovarian Cancer Susceptibility Collaboration, Loveday, C, Law, P, Hanks, S, Poyastro-Pearson, E, Adlard, J W, Barwell, J, Berg, J, Brady, A F, Donaldson, A, Douglas, F, Greenhalgh, L, Izatt, L, Lalloo, F, Miedzybrodzka, Z, Morrison, P J, Porteous, M, Eccles, D, Evans, D G, Snape, K, Houlston, R S, Hanson, H, Turnbull, C, Rogers, M T, Walker, L, Brewer, C, Paterson, J, Kumar, A, Davidson, R, Chapman, C & Cook, J 2022, ' Analysis of rare disruptive germline mutations in 2135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes ', Annals of oncology : official journal of the European Society for Medical Oncology, vol. 33, no. 12, pp. 1318-1327 . https://doi.org/10.1016/j.annonc.2022.09.152Test
Breast and Ovarian Cancer Susceptibility Collaboration, Loveday, C, Garrett, A, Law, P, Hanks, S, Poyastro-Pearson, E, Adlard, J W, Barwell, J, Berg, J, Brady, A F, Brewer, C, Chapman, C, Cook, J, Davidson, R, Donaldson, A, Douglas, F, Greenhalgh, L, Henderson, A, Izatt, L, Kumar, A, Lalloo, F, Miedzybrodzka, Z, Morrison, P J, Paterson, J, Porteous, M, Rogers, M T, Walker, L, Eccles, D, Evans, D G, Snape, K, Hanson, H, Houlston, R S & Turnbull, C 2022, ' Analysis of rare disruptive germline mutations in 2,135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes ', Annals of oncology : official journal of the European Society for Medical Oncology, vol. 33, no. 12, pp. 1318-1327 . https://doi.org/10.1016/j.annonc.2022.09.152Testمصطلحات موضوعية: Adult, Ovarian Neoplasms, rare-variant burden testing, Whole exome sequencing, Breast Neoplasms, Triple Negative Breast Neoplasms, Hematology, breast cancer, SDG 3 - Good Health and Well-being, Oncology, Humans, Female, Genetic Predisposition to Disease, cancer susceptibility genes, whole-exome sequencing, Rare variant burden testing, Germ-Line Mutation, Retrospective Studies, genetic susceptibility
وصف الملف: application/pdf; text
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6986764441617a144e724063e762ecfTest
https://research.manchester.ac.uk/en/publications/2e088aaa-ff70-4a90-af9a-d3d781a5a2adTest -
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المؤلفون: Matthew Ellis, B J Leech, C Hill, K L Greenhalgh, I A Aligianis, G Bromilow, H Cox, Y Stait, P W Lunt
المصدر: Archives of Disease in Childhood. 88:523-524
مصطلحات موضوعية: Adult, Pediatrics, medicine.medical_specialty, Adolescent, Chromosomes, Human, Pair 22, Developmental Disabilities, Genetic counseling, Short Report, medicine, Humans, Hypocalcaemia, 22q11 microdeletion, Child, Retrospective Studies, Patient Care Team, Hypocalcemia, business.industry, Infant, Newborn, Cytogenetics, Infant, Retrospective cohort study, Syndrome, medicine.disease, humanities, body regions, El Niño, Child, Preschool, Pediatrics, Perinatology and Child Health, Case note, Chromosome Deletion, business, 22q11 deletion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::617d9a31c8750afd0e4e649e6e3d0e44Test
https://doi.org/10.1136/adc.88.6.523Test