A novel splice site mutation in the EYA1 gene in a Korean family with branchio-oto (BO) syndrome

By Kwon Min-Jung   Boo Sung Hyun   Kim Hee-Jin   Cho Yang-Sun   Chung Won-Ho   Hong Sung Hwa  

Acta Oto-Laryngologica, Vol. 129, Iss. 6, 2009-06 ,pp. : 688-693

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Audiovestibular findings in a branchio-oto syndrome patient with a SIX1 mutation

By Noguchi Yoshihiro   Ito Taku   Nishio Ayako   Honda Keiji   Kitamura Ken  

Acta Oto-Laryngologica, Vol. 131, Iss. 4, 2011-04 ,pp. : 413-418

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Phenotypic consequences in a Japanese family having branchio-oto-renal syndrome with a novel frameshift mutation in the gene EYA1

By Matsunaga Tatsuo   Okada Michiyo   Usami Shin-Ichi   Okuyama Torayuki  

Acta Oto-Laryngologica, Vol. 127, Iss. 1, 2007-01 ,pp. : 98-104

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A Comparative Study of Eya1 and Eya4 Protein Function and Its Implication in Branchio-oto-renal Syndrome and DFNA10

By Zhang Yuzhou   Knosp Boyd   Maconochie Mark   Friedman Rick   Smith Richard  

JARO - Journal of the Association for Research in Otolaryngology, Vol. 5, Iss. 3, 2004-09 ,pp. : 295-304

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Mutation analysis of Netrin 1 and HMX3 genes in patients with superior semicircular canal dehiscence syndrome

By Roknic Nikola   Huber Alexander   Hegemann Stefan C. A.   Häusler Rudolf   Gürtler Nicolas  

Acta Oto-Laryngologica, Vol. 132, Iss. 10, 2012-10 ,pp. : 1061-1065

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