A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss

By Ebermann Inga   Scholl Hendrik   Charbel Issa Peter   Becirovic Elvir   Lamprecht Jürgen   Jurklies Bernhard   Millán José   Aller Elena   Mitter Diana   Bolz Hanno  

Human Genetics, Vol. 121, Iss. 2, 2007-04 ,pp. : 203-211

Springer Publishing Company

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Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with mutations – phenotypic spectrum and frequencies of mutations in Austria

By Janecke Andreas   Hirst-Stadlmann Almut   Günther Barbara   Utermann Barbara   Müller Thomas   Löffler Judith   Utermann Gerd   Nekahm-Heis Doris  

Human Genetics, Vol. 111, Iss. 2, 2002-08 ,pp. : 145-153

Springer Publishing Company

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Mutations in the Wolfram syndrome 1 gene ( WFS1 ) are a common cause of low frequency sensorineural hearing loss

By Kurnool P.  

Human Molecular Genetics, Vol. 10, Iss. 22, 2001-10 ,pp. : 2501-2508

Oxford University Press

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Novel mutations in the connexin43 () and pseudogene may contribute to nonsyndromic hearing loss

By Hong Hui-Mei   Yang Jiann-Jou   Shieh Jia-Ching   Li Mei-Ling   Li Shuan-Yow  

Human Genetics, Vol. 127, Iss. 5, 2010-05 ,pp. : 545-551

Springer Publishing Company

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A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects

By Morton C.C.  

Human Molecular Genetics, Vol. 8, Iss. 2, 1999-02 ,pp. : 361-366

Oxford University Press

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