AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance

By  

Audiology and Neurotology, Vol. 22, Iss. 1, 2017-06 ,pp. : 30-40

Karger

Access to resources Recommend Favorite

Audiological and genetic studies on large families with non-syndromic deafness

By Liu Xue   Ouyang Xiao   Du Li   Ke Xiao   Pu Xing   Linag Chuan   Liu Yu He   Liu Shi Xi   Guan Min-Xin   Angeli Simon   Yan Denise  

Audiological Medicine, Vol. 6, Iss. 3, 2008-01 ,pp. : 208-214

Informa Healthcare

Access to resources Recommend Favorite

The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene

By Amati-Bonneau P.   Odent S.   Derrien C.   Pasquier L.   Malthiery Y.   Reynier P.   Bonneau D.  

American Journal of Ophthalmology, Vol. 136, Iss. 6, 2003-12 ,pp. : 1170-1171

Elsevier

Access to resources Recommend Favorite

A mutation in Wolfram syndrome type 1 gene in a Japanese family with autosomal dominant low-frequency sensorineural hearing loss

By Noguchi Yoshihiro   Yashima Takatoshi   Hatanaka Akio   Uzawa Masamichi   Yasunami Michio   Kimura Akinori   Kitamura Ken  

Acta Oto-Laryngologica, Vol. 125, Iss. 11, 2005-11 ,pp. : 1189-1194

Informa Healthcare

Access to resources Recommend Favorite

An Analysis of a Large Postlingually Deaf Family with Hereditary Non-syndromic Profound Hearing Loss

By Angeli Simón I.   Naranjo Carlos   Friedman Rick A.   Naranjo Alfredo   Henríquez Oswaldo   Fischel-Ghodsian Nathan   Chiossone Edgar  

Acta Oto-Laryngologica, Vol. 119, Iss. 2, 1999-04 ,pp. : 158-162

Informa Healthcare

Access to resources Recommend Favorite