Ocular findings in distal arthrogryposis

By Pallotta Rosanna   Ehresmann Tamara   Fusilli Paola  

Ophthalmic Genetics, Vol. 22, Iss. 2, 2001-06 ,pp. : 125-130

Informa Healthcare

Access to resources Recommend Favorite

Progressive autosomal dominant optic atrophy and sensorineural hearing loss in a Turkish family

By Özden Serap   Düzcan Füsun   Wollnik Bernd   Çetin G. Ozan   Sahiner Türker   Bayramoglu Ismet   Yüksel-Apak Memnune   Bagci Hüseyin  

Ophthalmic Genetics, Vol. 23, Iss. 1, 2002-03 ,pp. : 29-36

Informa Healthcare

Access to resources Recommend Favorite

Novel rhodopsin mutation in a Chinese family with autosomal dominant retinitis pigmentosa

By Zhao Kanxing   Xiong Shihong   Wang Li   Wang Lejin   Cui Yun   Wang Qing  

Ophthalmic Genetics, Vol. 22, Iss. 3, 2001-09 ,pp. : 155-162

Informa Healthcare

Access to resources Recommend Favorite

Absence of ocular manifestations in autosomal dominant Alport syndrome associated with haematological abnormalties

By Colville D.   Wang Y.Y.   Jamieson R.   Collins F.   Hood Jeni   Savige J.  

Ophthalmic Genetics, Vol. 21, Iss. 4, 2000-12 ,pp. : 217-225

Informa Healthcare

Access to resources Recommend Favorite

A Novel CRYBB2 Missense Mutation Causing Congenital Autosomal Dominant Cataract in an Italian Family

By Faletra Flavio   d'Adamo Adamo Pio   Pensiero Stefano   Athanasakis Emmanouil   Catalano Dario   Bruno Irene   Gasparini Paolo  

Ophthalmic Genetics, Vol. 34, Iss. 1-2, 2013-06 ,pp. : 115-117

Informa Healthcare

Access to resources Recommend Favorite