Variable ocular phenotypes of posterior polymorphous corneal dystrophy caused by mutations in the ZEB1 gene

By Liskova Petra   Filipec Martin   Merjava Stanislava   Jirsova Katerina   Tuft Stephen J.  

Ophthalmic Genetics, Vol. 31, Iss. 4, 2010-12 ,pp. : 230-234

Informa Healthcare

Access to resources Recommend Favorite

Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy

By Liu Xue Zhong   Xie Dinghua   Yuan Hui Jun   de Brouwer Arjan P. M.   Christodoulou John   Yan Denise  

International Journal of Audiology, Vol. 52, Iss. 1, 2013-01 ,pp. : 23-28

Informa Healthcare

Access to resources Recommend Favorite

Expansion of the Clinical Ocular Spectrum of Wolfram Syndrome in a Family Carrying a Novel WFS1 Gene Deletion

By Chacón-Camacho Oscar   Arce-Gonzalez Rocio   Granillo-Alvarez Mariella   Flores-Limas Sanjuanita   Ramírez Magdalena   Zenteno Juan C.  

Ophthalmic Genetics, Vol. 34, Iss. 4, 2013-12 ,pp. : 243-248

Informa Healthcare

Access to resources Recommend Favorite

Mutation Screening of the GUCA1B Gene in Patients with Autosomal Dominant Cone and Cone Rod Dystrophy

By Kitiratschky Veronique B. D.   Glööckner Christian Johannes   Kohl Susanne  

Ophthalmic Genetics, Vol. 32, Iss. 3, 2011-09 ,pp. : 151-155

Informa Healthcare

Access to resources Recommend Favorite

OCT findings in young asymptomatic subjects carrying familial BEST1 gene mutations

By Chacon-Camacho Oscar F.   Camarillo-Blancarte Leyla   Zenteno Juan C.  

Ophthalmic Genetics, Vol. 32, Iss. 1, 2011-03 ,pp. : 24-30

Informa Healthcare

Access to resources Recommend Favorite