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1دورية 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
وصف الملف: electronic resource
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2دورية 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
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1756-994XTest
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3دورية 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)
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2045-2322Test
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4دورية 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 2, Pp 73-83 (2021)
مصطلحات موضوعية: hypertrophic cardiomyopathy, MYBPC3, splice variants, minigene assays, Diseases of the circulatory (Cardiovascular) system, RC666-701
وصف الملف: electronic resource
العلاقة: https://www.mdpi.com/2035-8148/11/2/9Test; https://doaj.org/toc/2035-8253Test; https://doaj.org/toc/2035-8148Test
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5دورية 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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6
المؤلفون: Yanshan Liu, Siddharth Banka, Yingzhi Huang, Jonathan Hardman-Smart, Derek Pye, Antonio Torrelo, Glenda M. Beaman, Marcelo G. Kazanietz, Martin J. Baker, Carlo Ferrazzano, Chenfu Shi, Gisela Orozco, Stephen Eyre, Michel van Geel, Anette Bygum, Judith Fischer, Zosia Miedzybrodzka, Faris Abuzahra, Albert Rübben, Sara Cuvertino, Jamie M. Ellingford, Miriam J. Smith, D. Gareth Evans, Lizelotte J.M.T. Weppner-Parren, Maurice A.M. van Steensel, Iskander H. Chaudhary, D. Chas Mangham, John T. Lear, Ralf Paus, Jorge Frank, William G. Newman, Xue Zhang
المساهمون: Lee Kong Chian School of Medicine (LKCMedicine), Skin Research Institute of Singapore, A*STAR, RS: GROW - R3 - Innovative Cancer Diagnostics & Therapy, MUMC+: MA Dermatologie (9)
المصدر: British Journal of Dermatology, 187(6), 948-961. Wiley
مصطلحات موضوعية: Comparative Genomic Hybridization, Germ Cells, DNA Copy Number Variations, Carcinoma, Basal Cell, Microfilament Proteins, Humans, Follicular Atrophoderma, Medicine [Science], Dermatology, Hypotrichosis, Hair Follicle
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce266f5315a5c98055d5aabca2e9efebTest
https://doi.org/10.1111/bjd.21842Test -
7دورية 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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8دورية 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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9دورية أكاديمية
المؤلفون: Charlie F Rowlands, Diana Baralle, Jamie M Ellingford
المصدر: Cells; Volume 8; Issue 12; Pages: 1513
مصطلحات موضوعية: Mendelian disease, diagnostics, variant interpretation, variant prioritization, RNA splicing, bioinformatics, machine learning, genomic medicine, effect prediction
وصف الملف: application/pdf
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10
المؤلفون: Malena Daich Varela, James Bellingham, Fabiana Motta, Neringa Jurkute, Jamie M Ellingford, Mathieu Quinodoz, Kathryn Oprych, Michael Niblock, Lucas Janeschitz-Kriegl, Karolina Kaminska, Francesca Cancellieri, Hendrik P N Scholl, Eva Lenassi, Elena Schiff, Hannah Knight, Graeme Black, Carlo Rivolta, Michael E Cheetham, Michel Michaelides, Omar A Mahroo, Anthony T Moore, Andrew R Webster, Gavin Arno
المصدر: Human molecular genetics, vol 32, iss 4
مصطلحات موضوعية: Patient Care Team, Genetics & Heredity, Whole Genome Sequencing, DNA Mutational Analysis, Human Genome, Membrane Proteins, Nerve Tissue Proteins, General Medicine, Biological Sciences, Medical and Health Sciences, Pedigree, Clinical Research, Mutation, Retinal Dystrophies, Genetics, Humans, 2.1 Biological and endogenous factors, Aetiology, Eye Proteins, Molecular Biology, Genetics (clinical)
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4eecf9b5f20e38556985a642ed4fc37bTest
https://escholarship.org/uc/item/4z14k3r2Test