Search Results - Eleanor G. Seaby
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Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes by Eleanor G. Seaby, Eleanor G. Seaby, Eleanor G. Seaby, Eleanor G. Seaby, Heidi L. Rehm, Heidi L. Rehm, Anne O’Donnell-Luria, Anne O’Donnell-Luria, Anne O’Donnell-Luria, Anne O’Donnell-Luria
Published 2021-06-01
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Modelling human genetic disorders in Xenopus tropicalis by Helen Rankin Willsey, Eleanor G. Seaby, Annie Godwin, Sarah Ennis, Matthew Guille, Robert M. Grainger
Published 2024-05-01
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Unexpected Findings in a Child with Atypical Hemolytic Uremic Syndrome: An Example of How Genomics Is Changing the Clinical Diagnostic Paradigm by Eleanor G. Seaby, Rodney D. Gilbert, Rodney D. Gilbert, Gaia Andreoletti, Reuben J. Pengelly, Catherine Mercer, David Hunt, Sarah Ennis
Published 2017-05-01
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Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease by Christine Gast, Anthony Marinaki, Monica Arenas-Hernandez, Sara Campbell, Eleanor G. Seaby, Reuben J. Pengelly, Daniel P. Gale, Thomas M. Connor, David J. Bunyan, Kateřina Hodaňová, Martina Živná, Stanislav Kmoch, Sarah Ennis, G. Venkat-Raman
Published 2018-10-01
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Treatment of Multisystem Inflammatory Syndrome in Children: Understanding Differences in Results of Comparative Effectiveness Studies by Michael Melgar, Eleanor G. Seaby, Andrew J. McArdle, Cameron C. Young, Angela P. Campbell, Nancy L. Murray, Manish M. Patel, Michael Levin, Adrienne G. Randolph, Mary Beth F. Son, BATS Consortium and the Overcoming COVID‐19 Investigators
Published 2022-09-01
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Impaired expression of metallothioneins contributes to allergen-induced inflammation in patients with atopic dermatitis by Sofia Sirvent, Andres F. Vallejo, Emma Corden, Ying Teo, James Davies, Kalum Clayton, Eleanor G. Seaby, Chester Lai, Sarah Ennis, Rfeef Alyami, Gemma Douilhet, Lareb S. N. Dean, Matthew Loxham, Sarah Horswill, Eugene Healy, Graham Roberts, Nigel J. Hall, Peter S. Friedmann, Harinder Singh, Clare L. Bennett, Michael R Ardern-Jones, Marta E. Polak
Published 2023-05-01
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A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder by Lot Snijders Blok, Jolijn Verseput, Dmitrijs Rots, Hanka Venselaar, A. Micheil Innes, Connie Stumpel, Katrin Õunap, Karit Reinson, Eleanor G. Seaby, Shane McKee, Barbara Burton, Katherine Kim, Johanna M. van Hagen, Quinten Waisfisz, Pascal Joset, Katharina Steindl, Anita Rauch, Dong Li, Elaine H. Zackai, Sarah E. Sheppard, Beth Keena, Hakon Hakonarson, Andreas Roos, Nicolai Kohlschmidt, Anna Cereda, Maria Iascone, Erika Rebessi, Kristin D. Kernohan, Philippe M. Campeau, Francisca Millan, Jesse A. Taylor, Hanns Lochmüller, Martin R. Higgs, Amalia Goula, Birgitta Bernhard, Danita J. Velasco, Andrew A. Schmanski, Zornitza Stark, Lyndon Gallacher, Lynn Pais, Paul C. Marcogliese, Shinya Yamamoto, Nicholas Raun, Taryn E. Jakub, Jamie M. Kramer, Joery den Hoed, Simon E. Fisher, Han G. Brunner, Tjitske Kleefstra
Published 2023-01-01
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