ORCA
Online Research @ Cardiff
Browse by All Cardiff Authors
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Up a levelNumber of items: 5.
Kamath, Arveen, Linden, Stefanie C.  ORCID: https://orcid.org/0000-0003-2120-3811, Evans, Ffion M., Hall, Jeremy ORCID: https://orcid.org/0000-0003-2737-9009, Jose, Sian F., Spillane, Sally A., Hardie, Alan D. R., Morgan, Sian M. and Pilz, Daniela T.
2018.
Chromosome 17q12 duplications: Further delineation of the range of psychiatric and clinical phenotypes.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
177
(5)
, pp. 520-528.
10.1002/ajmg.b.32643
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Thomas, Laura E. ORCID: https://orcid.org/0000-0002-8621-5285, Hurley, Joanna J., Meuser, Elena, Jose, Sian, Ashelford, Kevin E. ORCID: https://orcid.org/0000-0003-3217-2811, Mort, Matthew ORCID: https://orcid.org/0000-0002-3986-0935, Idziaszczyk, Shelley, Maynard, Julie, Leon Brito, Helena, Harry, Manon, Walters, Angharad, Raja, Meera, Walton, Sarah-Jane, Dolwani, Sunil ORCID: https://orcid.org/0000-0002-3113-5472, Williams, Geraint T. ORCID: https://orcid.org/0000-0003-3768-9940, Morgan, Meleri, Moorghen, Morgan, Clark, Susan K. and Sampson, Julian R. ORCID: https://orcid.org/0000-0002-2902-2348
2017.
Burden and profile of somatic mutation in duodenal adenomas from patients with familial adenomatous- and MUTYH-associated polyposis.
Clinical Cancer Research
23
(21)
, pp. 6721-6732.
10.1158/1078-0432.CCR-17-1269
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Iacovazzo, Donato, Caswell, Richard, Bunce, Benjamin, Jose, Sian, Yuan, Bo, Hernández-Ramírez, Laura C., Kapur, Sonal, Caimari, Francisca, Evanson, Jane, Ferraù, Francesco, Dang, Mary N., Gabrovska, Plamena, Larkin, Sarah J., Ansorge, Olaf, Rodd, Celia, Vance, Mary L., Ramírez-Renteria, Claudia, Mercado, Moisés, Goldstone, Anthony P., Buchfelder, Michael, Burren, Christine P., Gurlek, Alper, Dutta, Pinaki, Choong, Catherine S., Cheetham, Timothy, Trivellin, Giampaolo, Stratakis, Constantine A., Lopes, Maria-Beatriz, Grossman, Ashley B., Trouillas, Jacqueline, Lupski, James R., Ellard, Sian, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Roncaroli, Federico and Korbonits, Márta
2016.
Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study.
Acta Neuropathologica Communications
4
, 56.
10.1186/s40478-016-0328-1
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Rodd, Celia, Millette, Maude, Iacovazzo, Donato, Stiles, Craig E., Barry, Sayka, Evanson, Jane, Albrecht, Steffen, Caswell, Richard, Bunce, Benjamin, Jose, Sian, Trouillas, Jacqueline, Roncaroli, Federico, Sampson, Julian ORCID: https://orcid.org/0000-0002-2902-2348, Ellard, Sian and Korbonits, Márta
2016.
Somatic GPR101 duplication causing X-Linked acrogigantism (XLAG)- diagnosis and management.
Journal of Clinical Endocrinology & Metabolism
101
(5)
, pp. 1927-1930.
10.1210/jc.2015-4366
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Short, Emma, Thomas, Laura E. ORCID: https://orcid.org/0000-0002-8621-5285, Hurley, Joanna, Jose, Sian and Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348
2015.
Inherited predisposition to colorectal cancer: towards a more complete picture.
Journal of Medical Genetics
52
, pp. 791-796.
10.1136/jmedgenet-2015-103298
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