Ptosis as an associated finding in maternally inherited diabetes and deafness

By Robberecht Kirsten   Decock Christian   Stevens Annemie   Seneca Sara   De Bleecker Jan   Leroy Bart P.  

Ophthalmic Genetics, Vol. 31, Iss. 4, 2010-12 ,pp. : 240-243

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Connexin 26 mutations in autosomal recessive deafness disorders: A review

By Apps Stacey   Rankin Wayne   Kurmis Andrew  

International Journal of Audiology, Vol. 46, Iss. 2, 2007-02 ,pp. : 75-81

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Identification of two heterozygous deafness mutations in SLC26A4 (PDS) in a Chinese family with two siblings

By Chen Jie   Wei Qinjun   Yao Jun   Qian Xiaoyun   Dai Yanhong   Yang Ye   Cao Xin   Gao Xia  

International Journal of Audiology, Vol. 52, Iss. 2, 2013-02 ,pp. : 134-138

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Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene

By Tranebjærg Lisbeth   Jensen Peter K.A.   Van Ghelue Marijke   Vnencak-Jones Cindy L.   Sund Staale   Elgjo Kjell   Jakobsen Johannes   Lindal Sigurd   Warburg Mette   Fuglsang-Frederiksen Anders   Skullerud Kari  

Ophthalmic Genetics, Vol. 22, Iss. 4, 2001-12 ,pp. : 207-223

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Cytochrome P4501B1 mutations cause only part of primary congenital glaucoma in Ecuador

By Curry Stacey M.   Daou Aline G.   Hermanns Pia   Molinari Andrea   Lewis Richard Alan   Bejjani Bassem A.  

Ophthalmic Genetics, Vol. 25, Iss. 1, 2004-03 ,pp. : 3-9

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