Results 141 to 150 of about 431,670 (160)

Clinical characteristics, imaging findings, and genetic results of a patient with CEP290-related cone-rod dystrophy

Ophthalmic Genetics, 2021
Ferran Vilaplana, Xavier Valldeperas, Ignacio Blanco   +2 more
exaly  

Novel mutation in SLC4A7 gene causing autosomal recessive progressive rod-cone dystrophy

Ophthalmic Genetics, 2020
Jeeyun Ahn, Michael B Gorin, John P W Chiang   +2 more
exaly  

Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy

International Journal of Molecular Sciences, 2021
Elodie Lebredonchel, Christina Zeitz, Jose Alain Sahel   +2 more
exaly  

Quantification of residual ellipsoid zone and its correlation with visual functions in patients with cone-rod dystrophy

European Journal of Ophthalmology, 2021
Ryo Asaoka, Takumi Hara, Ryo Obata
exaly  

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

Ophthalmic Genetics, 2011
Susanne Kohl
exaly  

variants in cone–rod dystrophy and mutation overview

Biochemical and Biophysical Research Communications, 2012
Qingjiong Zhang, Xiangming Guo, Li Huang
exaly  

Progressive expansion of the hyperautofluorescent ring in cone-rod dystrophy patients

Ophthalmic Genetics, 2018
Michel Farah, Luiz H. Lima, Bruna Ferraço Marianelli   +2 more
exaly  

Cone Dystrophy With “Supernormal” Rod ERG: Psychophysical Testing Shows Comparable Rod and Cone Temporal Sensitivity Losses With No Gain in Rod Function

Investigative Ophthalmology and Visual Science, 2014
Andrew R Webster, Anthony T Moore, Andrew Stockman   +2 more
exaly  

A retGC-1 Mutation in Autosomal Dominant Cone-Rod Dystrophy

American Journal of Human Genetics, 1998
Jean-michel Rozet, Eric H Souied, Josseline Kaplan   +2 more
exaly  

Cone-rod dystrophy associated with amelogenesis imperfecta in a child with neurofibromatosis type 1

Ophthalmic Genetics, 2012
Ditta Zobor, Bernd Wissinger, Helmut Wilhelm   +2 more
exaly