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1دورية أكاديمية
المؤلفون: Jamie M. Ellingford, Joo Wook Ahn, Richard D. Bagnall, Diana Baralle, Stephanie Barton, Chris Campbell, Kate Downes, Sian Ellard, Celia Duff-Farrier, David R. FitzPatrick, John M. Greally, Jodie Ingles, Neesha Krishnan, Jenny Lord, Hilary C. Martin, William G. Newman, Anne O’Donnell-Luria, Simon C. Ramsden, Heidi L. Rehm, Ebony Richardson, Moriel Singer-Berk, Jenny C. Taylor, Maggie Williams, Jordan C. Wood, Caroline F. Wright, Steven M. Harrison, Nicola Whiffin
المصدر: Genome Medicine, Vol 14, Iss 1, Pp 1-19 (2022)
مصطلحات موضوعية: Variant interpretation, Non-coding variation, Gene regulation, Medicine, Genetics, QH426-470
العلاقة: https://doi.org/10.1186/s13073-022-01073-3Test; https://doaj.org/toc/1756-994XTest; https://doaj.org/article/592317068741464ab4f2701a8ccc78e4Test
الإتاحة: https://doi.org/10.1186/s13073-022-01073-3Test
https://doaj.org/article/592317068741464ab4f2701a8ccc78e4Test -
2دورية أكاديمية
المؤلفون: D. Gareth Evans, Elke M. van Veen, Emma R. Woodward, Elaine F. Harkness, Jamie M. Ellingford, Naomi L. Bowers, Andrew J. Wallace, Sacha J. Howell, Anthony Howell, Fiona Lalloo, William G. Newman, Miriam J. Smith
المصدر: Cancers; Volume 13; Issue 16; Pages: 4154
مصطلحات موضوعية: breast cancer, BRCA1, BRCA2, PALB2, ATM, CHEK2, panel test
وصف الملف: application/pdf
العلاقة: Cancer Pathophysiology; https://dx.doi.org/10.3390/cancers13164154Test
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3دورية أكاديمية
المؤلفون: Katherine A. Wood, Jamie M. Ellingford, James Eden, Huw B. Thomas, Raymond T. O’Keefe, Claire Hopton, William G. Newman
المصدر: Cardiogenetics; Volume 11; Issue 2; Pages: 73-83
مصطلحات موضوعية: hypertrophic cardiomyopathy, MYBPC3, splice variants, minigene assays
وصف الملف: application/pdf
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4دورية أكاديمية
المؤلفون: D. Gareth Evans, Elke M. van Veen, Emma R. Woodward, Elaine F. Harkness, Jamie M. Ellingford, Naomi L. Bowers, Andrew J. Wallace, Sacha J. Howell, Anthony Howell, Fiona Lalloo, William G. Newman, Miriam J. Smith
المصدر: Cancers, Vol 13, Iss 4154, p 4154 (2021)
مصطلحات موضوعية: breast cancer, BRCA1, BRCA2, PALB2, ATM, CHEK2, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
العلاقة: https://www.mdpi.com/2072-6694/13/16/4154Test; https://doaj.org/toc/2072-6694Test; https://doaj.org/article/ac2e30e983064b6895f92f36a899e14aTest
الإتاحة: https://doi.org/10.3390/cancers13164154Test
https://doaj.org/article/ac2e30e983064b6895f92f36a899e14aTest -
5دورية أكاديمية
المؤلفون: Charlie Rowlands, Huw B. Thomas, Jenny Lord, Htoo A. Wai, Gavin Arno, Glenda Beaman, Panagiotis Sergouniotis, Beatriz Gomes-Silva, Christopher Campbell, Nicole Gossan, Claire Hardcastle, Kevin Webb, Christopher O’Callaghan, Robert A. Hirst, Simon Ramsden, Elizabeth Jones, Jill Clayton-Smith, Andrew R. Webster, Genomics England Research Consortium, Andrew G. L. Douglas, Raymond T. O’Keefe, William G. Newman, Diana Baralle, Graeme C. M. Black, Jamie M. Ellingford
المصدر: Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
العلاقة: https://doi.org/10.1038/s41598-021-99747-2Test; https://doaj.org/toc/2045-2322Test; https://doaj.org/article/cff014b62747418fa2af4029a4e249c3Test
الإتاحة: https://doi.org/10.1038/s41598-021-99747-2Test
https://doaj.org/article/cff014b62747418fa2af4029a4e249c3Test -
6دورية أكاديمية
المؤلفون: Katherine A. Wood, Jamie M. Ellingford, James Eden, Huw B. Thomas, Raymond T. O’Keefe, Claire Hopton, William G. Newman
المصدر: Cardiogenetics, Vol 11, Iss 9, Pp 73-83 (2021)
مصطلحات موضوعية: hypertrophic cardiomyopathy, MYBPC3, splice variants, minigene assays, Diseases of the circulatory (Cardiovascular) system, RC666-701
العلاقة: https://www.mdpi.com/2035-8148/11/2/9Test; https://doaj.org/toc/2035-8253Test; https://doaj.org/toc/2035-8148Test; https://doaj.org/article/5c46b773a2b144039d74397e5dc7663cTest
الإتاحة: https://doi.org/10.3390/cardiogenetics11020009Test
https://doaj.org/article/5c46b773a2b144039d74397e5dc7663cTest -
7دورية أكاديمية
المؤلفون: Jamie M Ellingford, Ryan George, John H McDermott, Shazaad Ahmad, Jonathan J Edgerley, David Gokhale, William G Newman, Stephen Ball, Nicholas Machin, Graeme CM Black
المصدر: eLife, Vol 10 (2021)
مصطلحات موضوعية: SARS-CoV-2, genome, sequencing, healthcare worker, healthcare-associated, nosocomial, Medicine, Science, Biology (General), QH301-705.5
العلاقة: https://elifesciences.org/articles/65453Test; https://doaj.org/toc/2050-084XTest; e65453; https://doaj.org/article/ccd0a2e9674f422e9315dcf5926a5603Test
الإتاحة: https://doi.org/10.7554/eLife.65453Test
https://doaj.org/article/ccd0a2e9674f422e9315dcf5926a5603Test -
8دورية أكاديمية
المؤلفون: Jamie M. Ellingford, Robert B. Hufnagel, Gavin Arno
المصدر: Genes; Volume 11; Issue 11; Pages: 1274
مصطلحات موضوعية: n/a
جغرافية الموضوع: agris
وصف الملف: application/pdf
العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes11111274Test
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9دورية أكاديمية
المؤلفون: David J. Green, Shalaw R. Sallah, Jamie M. Ellingford, Simon C. Lovell, Panagiotis I. Sergouniotis
المصدر: Genes; Volume 11; Issue 2; Pages: 179
مصطلحات موضوعية: inherited eye disease, inherited retinal disease, variable expressivity, incomplete penetrance
جغرافية الموضوع: agris
وصف الملف: application/pdf
العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes11020179Test
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10دورية أكاديمية
المؤلفون: David J. Green, Shalaw R. Sallah, Jamie M. Ellingford, Simon C. Lovell, Panagiotis I. Sergouniotis
المصدر: Genes, Vol 11, Iss 2, p 179 (2020)
مصطلحات موضوعية: inherited eye disease, inherited retinal disease, variable expressivity, incomplete penetrance, Genetics, QH426-470
العلاقة: https://www.mdpi.com/2073-4425/11/2/179Test; https://doaj.org/toc/2073-4425Test; https://doaj.org/article/93f1e396c1694f9e85f18862910da17bTest
الإتاحة: https://doi.org/10.3390/genes11020179Test
https://doaj.org/article/93f1e396c1694f9e85f18862910da17bTest