Results 151 to 160 of about 264,225 (169)

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  

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  

Case of cone dystrophy with normal fundus appearance associated with biallelic POC1B variants

Ophthalmic Genetics, 2018
Yasuki Ito, Takeshi Iwata, Kaoru Fujinami   +2 more
exaly  

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

Ophthalmic Genetics, 2011
Susanne Kohl
exaly  

X-linked cone dystrophy

Documenta Ophthalmologica, 1988
A Pinckers
exaly  

Autosomal dominant cone dystrophy-cerebellar atrophy (ADCoCA) (modified ADCA Harding II)

Neuro-Ophthalmology, 1990
A Neetens, J Libert
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  

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