Anne-Martine R. de Heer

Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer

Rob W.J. Collin, Anne-Martine R. de Heer, Jaap Oostrik et al. · European Journal of Human Genetics · 2008 · 40 citations · Full text

Synonymous Tecta Mutation, Developmental Biology, Genetics +11

Progressive Sensorineural Hearing Loss and Normal Vestibular Function in a Dutch DFNB7/11 Family with a Novel Mutation in <i>TMC1</i>

Anne-Martine R. de Heer, Rob W.J. Collin, P.L.M. Huygen et al. · Audiology and Neurotology · 2010 · 40 citations

Normal Vestibular Function, Genetics, Pathology +26

Audiometric and Vestibular Features in a Second Dutch DFNA20/26 Family with a Novel Mutation in <i>ACTG1</i>

Anne-Martine R. de Heer, P.L.M. Huygen, Rob W.J. Collin et al. · Annals of Otology Rhinology & Laryngology · 2009 · 21 citations

Mild and Variable Audiometric and Vestibular Features in a Third DFNA15 Family with a Novel Mutation in <i>POU4F3</i>

Anne-Martine R. de Heer, P.L.M. Huygen, Rob W.J. Collin et al. · Annals of Otology Rhinology & Laryngology · 2009 · 15 citations

Flat Threshold and Mid-Frequency Hearing Impairment in a Dutch DFNA8/12 Family with a Novel Mutation in &lt;i&gt;TECTA&lt;/i&gt;

Anne-Martine R. de Heer, Robert J. Pauw, P.L.M. Huygen et al. · Audiology and Neurotology · 2008 · 15 citations

Genetics, Present Tecta Mutation, Flat Threshold +21