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1دورية أكاديمية
المؤلفون: Philip Anyanwu, Yvonne Moriarty, Grace McCutchan, Detelina Grozeva, Mark Goddard, Victoria Whitelock, Rebecca Cannings-John, Harriet Quinn-Scoggins, Jacqueline Hughes, Ardiana Gjini, Julie Hepburn, Kirstie Osborne, Michael Robling, Julia Townson, Jo Waller, Katriina L. Whitaker, Jamie Brown, Kate Brain, Graham Moore
المصدر: BMC Public Health, Vol 22, Iss 1, Pp 1-9 (2022)
مصطلحات موضوعية: Coronavirus disease 2019 (COVID-19), Lockdown, Health behaviour change, Attitudes, Public aspects of medicine, RA1-1270
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1471-2458Test
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2دورية أكاديمية
المؤلفون: Joanne Euden, Philip Pallmann, Detelina Grozeva, Mahableshwar Albur, Stuart E. Bond, Lucy Brookes-Howell, Paul Dark, Thomas Hellyer, Susan Hopkins, Philip Howard, Martin J. Llewelyn, Wakunyambo Maboshe, Iain J. McCullagh, Margaret Ogden, Helena Parsons, David Partridge, Neil Powell, Dominick Shaw, Bethany Shinkins, Tamas Szakmany, Stacy Todd, Emma Thomas-Jones, Robert M. West, Enitan D. Carrol, Jonathan A. T. Sandoe
المصدر: Methods and Protocols, Vol 5, Iss 6, p 95 (2022)
مصطلحات موضوعية: antibiotics, COVID-19, antimicrobial stewardship, procalcitonin, Biology (General), QH301-705.5
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Jo Waller, Graham Moore, Kate Brain, Victoria Whitelock, Rebecca Cannings-John, Katriina L Whitaker, Julie Hepburn, Yvonne Moriarty, Julia Townson, Michael Robling, Harriet D Quinn-Scoggins, Grace M McCutchan, Detelina Grozeva, Jacqueline Hughes, Kirstie Osborne, Mark Goddard, Ardiana Gjini
المصدر: BMJ Open, Vol 11, Iss 9 (2021)
مصطلحات موضوعية: Medicine
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Alba Sanchis-Juan, Jonathan Stephens, Courtney E. French, Nicholas Gleadall, Karyn Mégy, Christopher Penkett, Olga Shamardina, Kathleen Stirrups, Isabelle Delon, Eleanor Dewhurst, Helen Dolling, Marie Erwood, Detelina Grozeva, Luca Stefanucci, Gavin Arno, Andrew R. Webster, Trevor Cole, Topun Austin, Ricardo Garcia Branco, Willem H. Ouwehand, F. Lucy Raymond, Keren J. Carss
المصدر: Genome Medicine, Vol 10, Iss 1, Pp 1-10 (2018)
مصطلحات موضوعية: Genome sequencing, Next-generation sequencing, Complex structural variant, Nanopore, ARID1B, HNRNPU, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s13073-018-0606-6Test; https://doaj.org/toc/1756-994XTest
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5دورية أكاديمية
المؤلفون: Hemant Bengani, Detelina Grozeva, Lambert Moyon, Shipra Bhatia, Susana R Louros, Jilly Hope, Adam Jackson, James G Prendergast, Liusaidh J Owen, Magali Naville, Jacqueline Rainger, Graeme Grimes, Mihail Halachev, Laura C Murphy, Olivera Spasic-Boskovic, Veronica van Heyningen, Peter Kind, Catherine M Abbott, Emily Osterweil, F Lucy Raymond, Hugues Roest Crollius, David R FitzPatrick
المصدر: PLoS ONE, Vol 16, Iss 8, p e0256181 (2021)
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1932-6203Test
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6دورية أكاديمية
المؤلفون: Alba Sanchis-Juan, Christina Bitsara, Kay Yi Low, Keren J. Carss, Courtney E. French, Olivera Spasic-Boskovic, Joanna Jarvis, Michael Field, F. Lucy Raymond, Detelina Grozeva
المصدر: Frontiers in Genetics, Vol 10 (2019)
مصطلحات موضوعية: intellectual disability, Mendelian disease, next-generation sequencing, autosomal dominant, X-linked, mosaicism, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/article/10.3389/fgene.2019.00578/fullTest; https://doaj.org/toc/1664-8021Test
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7دورية أكاديمية
المؤلفون: Emily Baker, Rebecca Sims, Ganna Leonenko, Aura Frizzati, Janet C Harwood, Detelina Grozeva, GERAD/PERADES, CHARGE, ADGC, EADI, IGAP consortia, Kevin Morgan, Peter Passmore, Clive Holmes, John Powell, Carol Brayne, Michael Gill, Simon Mead, Paola Bossù, Gianfranco Spalletta, Alison M Goate, Carlos Cruchaga, Wolfgang Maier, Reinhard Heun, Frank Jessen, Oliver Peters, Martin Dichgans, Lutz FröLich, Alfredo Ramirez, Lesley Jones, John Hardy, Dobril Ivanov, Matthew Hill, Peter Holmans, Nicholas D Allen, B Paul Morgan, Sudha Seshadri, Gerard D Schellenberg, Philippe Amouyel, Julie Williams, Valentina Escott-Price
المصدر: PLoS ONE, Vol 14, Iss 7, p e0218111 (2019)
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1932-6203Test
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8دورية أكاديمية
المؤلفون: Olatz Villate, Nekane Ibarluzea, Eugenia Fraile-Bethencourt, Alberto Valenzuela, Eladio A. Velasco, Detelina Grozeva, F. L. Raymond, María P. Botella, María-Isabel Tejada
المصدر: Frontiers in Genetics, Vol 9 (2018)
مصطلحات موضوعية: CHD7, next generation sequencing, alternative splicing, minigene, CHARGE syndrome, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://journal.frontiersin.org/article/10.3389/fgene.2018.00007/fullTest; https://doaj.org/toc/1664-8021Test
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9دورية أكاديمية
المؤلفون: Hemant Bengani (425074), Detelina Grozeva (4799844), Lambert Moyon (11273460), Shipra Bhatia (276505), Susana R. Louros (5743778), Jilly Hope (113496), Adam Jackson (6637928), James G. Prendergast (8038910), Liusaidh J. Owen (11273463), Magali Naville (668692), Jacqueline Rainger (555531), Graeme Grimes (11273466), Mihail Halachev (6444560), Laura C. Murphy (11273469), Olivera Spasic-Boskovic (6881501), Veronica van Heyningen (57737), Peter Kind (239748), Catherine M. Abbott (11273472), Emily Osterweil (11273475), F. Lucy Raymond (6062462), Hugues Roest Crollius (11273478), David R. FitzPatrick (11273481)
مصطلحات موضوعية: Genetics, Evolutionary Biology, Cancer, Biological Sciences not elsewhere classified, Targeted sequencing, TENM 1 CRE, CRE variants, genome sequencing, X chromosome, neurophysiological indicators, population frequency, chrX CRE, stage-specific differences, Tenm 1 CRE mice, CRE mutations, mouse models, highly-selected cohort, coding regions, mice Fmr 1 CRE, neurodevelopmental disorders, family history, XLID genes, zebrafish brain, bespoke nature, reporter assay, phenotypic anomalies, ultra-rare CRE variant, FMR 1 CRE, neurodevelopmental Fmr 1 expression, enhancer function
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10دورية أكاديمية
المؤلفون: Hemant Bengani (425074), Detelina Grozeva (4799844), Lambert Moyon (11273460), Shipra Bhatia (276505), Susana R. Louros (5743778), Jilly Hope (113496), Adam Jackson (6637928), James G. Prendergast (8038910), Liusaidh J. Owen (11273463), Magali Naville (668692), Jacqueline Rainger (555531), Graeme Grimes (11273466), Mihail Halachev (6444560), Laura C. Murphy (11273469), Olivera Spasic-Boskovic (6881501), Veronica van Heyningen (57737), Peter Kind (239748), Catherine M. Abbott (11273472), Emily Osterweil (11273475), F. Lucy Raymond (6062462), Hugues Roest Crollius (11273478), David R. FitzPatrick (11273481)
مصطلحات موضوعية: Genetics, Evolutionary Biology, Cancer, Biological Sciences not elsewhere classified, Targeted sequencing, TENM 1 CRE, CRE variants, genome sequencing, X chromosome, neurophysiological indicators, population frequency, chrX CRE, stage-specific differences, Tenm 1 CRE mice, CRE mutations, mouse models, highly-selected cohort, coding regions, mice Fmr 1 CRE, neurodevelopmental disorders, family history, XLID genes, zebrafish brain, bespoke nature, reporter assay, phenotypic anomalies, ultra-rare CRE variant, FMR 1 CRE, neurodevelopmental Fmr 1 expression, enhancer function