Showing 1 - 20 results of 25 for search 'Karen P Steel', query time: 0.06s
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Mice deficient in H+-ATPase a4 subunit have severe hearing impairment associated with enlarged endolymphatic compartments within the inner ear by Beatriz Lorente-Cánovas, Neil Ingham, Elizabeth E. Norgett, Zoe J. Golder, Fiona E. Karet Frankl, Karen P. Steel
Published 2013-03-01
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Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes by Morag A. Lewis, Lisa S. Nolan, Barbara A. Cadge, Lois J. Matthews, Bradley A. Schulte, Judy R. Dubno, Karen P. Steel, Sally J. Dawson
Published 2018-09-01
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In-depth genetic and molecular characterization of diaphanous related formin 2 (DIAPH2) and its role in the inner ear. by Chiara Chiereghin, Michela Robusto, Morag A Lewis, Susana Caetano, Valentina Massa, Pierangela Castorina, Umberto Ambrosetti, Karen P Steel, Stefano Duga, Rosanna Asselta, Giulia Soldà
Published 2023-01-01
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Linkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing loss. by Giorgia Girotto, Khalid Abdulhadi, Annalisa Buniello, Diego Vozzi, Danilo Licastro, Angela d'Eustacchio, Dragana Vuckovic, Moza Khalifa Alkowari, Karen P Steel, Ramin Badii, Paolo Gasparini
Published 2013-01-01
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Accurate phenotypic classification and exome sequencing allow identification of novel genes and variants associated with adult-onset hearing loss. by Morag A Lewis, Jennifer Schulte, Lois Matthews, Kenneth I Vaden, Claire J Steves, Frances M K Williams, Bradley A Schulte, Judy R Dubno, Karen P Steel
Published 2023-11-01
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Insights into the pathophysiology of DFNA44 hearing loss associated with CCDC50 frameshift variants by María Lachgar-Ruiz, Matías Morín, Elisa Martelletti, Neil J. Ingham, Lorenzo Preite, Morag A. Lewis, Luciana Santos Serrão de Castro, Karen P. Steel, Miguel Ángel Moreno-Pelayo
Published 2023-08-01
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Systemic gene therapy rescues retinal dysfunction and hearing loss in a model of Norrie disease by Valda Pauzuolyte, Aara Patel, James R Wawrzynski, Neil J Ingham, Yeh Chwan Leong, Rajvinder Karda, Maria Bitner‐Glindzicz, Wolfgang Berger, Simon N Waddington, Karen P Steel, Jane C Sowden
Published 2023-10-01
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The novel mouse mutation Oblivion inactivates the PMCA2 pump and causes progressive hearing loss. by Sarah L Spiden, Mario Bortolozzi, Francesca Di Leva, Martin Hrabé de Angelis, Helmut Fuchs, Dmitry Lim, Saida Ortolano, Neil J Ingham, Marisa Brini, Ernesto Carafoli, Fabio Mammano, Karen P Steel
Published 2008-10-01
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Mechanotransduction is required for establishing and maintaining mature inner hair cells and regulating efferent innervation by Laura F. Corns, Stuart L. Johnson, Terri Roberts, Kishani M. Ranatunga, Aenea Hendry, Federico Ceriani, Saaid Safieddine, Karen P. Steel, Andy Forge, Christine Petit, David N. Furness, Corné J. Kros, Walter Marcotti
Published 2018-10-01
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Spinster homolog 2 (spns2) deficiency causes early onset progressive hearing loss. by Jing Chen, Neil Ingham, John Kelly, Shalini Jadeja, David Goulding, Johanna Pass, Vinit B Mahajan, Stephen H Tsang, Anastasia Nijnik, Ian J Jackson, Jacqueline K White, Andrew Forge, Daniel Jagger, Karen P Steel
Published 2014-10-01
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Correction: -Deficient Mice Reveal a Role for MCPH1 in Otitis Media. by Jing Chen, Neil Ingham, Simon Clare, Claire Raisen, Valerie E. Vancollie, Ozama Ismail, Rebecca E. McIntyre, Stephen H. Tsang, Vinit B. Mahajan, Gordon Dougan, David J. Adams, Jacqueline K. White, Karen P. Steel
Published 2013-01-01
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Mcph1-deficient mice reveal a role for MCPH1 in otitis media. by Jing Chen, Neil Ingham, Simon Clare, Claire Raisen, Valerie E Vancollie, Ozama Ismail, Rebecca E McIntyre, Stephen H Tsang, Vinit B Mahajan, Gordon Dougan, David J Adams, Jacqueline K White, Karen P Steel
Published 2013-01-01
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Identification and characterisation of spontaneous mutations causing deafness from a targeted knockout programme by Morag A. Lewis, Neil J. Ingham, Jing Chen, Selina Pearson, Francesca Di Domenico, Sohinder Rekhi, Rochelle Allen, Matthew Drake, Annelore Willaert, Victoria Rook, Johanna Pass, Thomas Keane, David J. Adams, Abigail S. Tucker, Jacqueline K. White, Karen P. Steel
Published 2022-03-01
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Identification of genes important for cutaneous function revealed by a large scale reverse genetic screen in the mouse. by Tia DiTommaso, Lynelle K Jones, Denny L Cottle, WTSI Mouse Genetics Program, Anna-Karin Gerdin, Valerie E Vancollie, Fiona M Watt, Ramiro Ramirez-Solis, Allan Bradley, Karen P Steel, John P Sundberg, Jacqueline K White, Ian M Smyth
Published 2014-10-01
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