Rezultaty - Karen P. Steel

Hearing impairment due to Mir183/96/182 mutations suggests both loss-of-function and gain-of-function effects od Morag A. Lewis, Francesca Di Domenico, Neil J. Ingham, Haydn M. Prosser, Karen P. Steel

Connect to this object online.

Mice deficient in H+-ATPase a4 subunit have severe hearing impairment associated with enlarged endolymphatic compartments within the inner ear od Beatriz Lorente-Cánovas, Neil Ingham, Elizabeth E. Norgett, Zoe J. Golder, Fiona E. Karet Frankl, Karen P. Steel

Connect to this object online.

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 od Morag A. Lewis, Lisa S. Nolan, Barbara A. Cadge, Lois J. Matthews, Bradley A. Schulte, Judy R. Dubno, Karen P. Steel, Sally J. Dawson

Connect to this object online.

Insights into the pathophysiology of DFNA44 hearing loss associated with CCDC50 frameshift variants od 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

Connect to this object online.

A gene expression resource generated by genome-wide lacZ profiling in the mouse od Elizabeth Tuck, Jeanne Estabel, Anika Oellrich, Anna Karin Maguire, Hibret A. Adissu, Luke Souter, Emma Siragher, Charlotte Lillistone, Angela L. Green, Hannah Wardle-Jones, Damian M. Carragher, Natasha A. Karp, Damian Smedley, Niels C. Adams, Sanger Institute Mouse Genetics Project, James N. Bussell, David J. Adams, Ramiro Ramírez-Solis, Karen P. Steel, Antonella Galli, Jacqueline K. White

Connect to this object online.