Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in pendred syndrome/enlarged vestibular aqueducts

Por Landa, Priya, Differ, Ann-Marie, Rajput, Kaukab, Jenkins, Lucy, Bitner-Glindzicz, Maria
Publicado em 2013

The frequency of the m.1555A>G (MTRNR1) variant in UK patients with suspected mitochondrial deafness

Por Kullar, Peter, Alston, Charlotte L., Ball, Sarah, Blakely, Emma L., Differ, Ann-Marie, Fratter, Carl, Sweeney, Mary G., Taylor, Robert W., Chinnery, Patrick F.
Publicado no Hearing Balance Commun (2016)

Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome

Por Cross, J Helen, Arora, Ruchi, Heckemann, Rolf A, Gunny, Roxana, Chong, Kling, Carr, Lucinda, Baldeweg, Torsten, Differ, Ann-Marie, Lench, Nicholas, Varadkar, Sophie, Sirimanna, Tony, Wassmer, Evangeline, Hulton, Sally A, Ognjanovic, Milos, Ramesh, Venkateswaran, Feather, Sally, Kleta, Robert, Hammers, Alexander, Bockenhauer, Detlef
Publicado no Dev Med Child Neurol (2013)