Associated Papers
Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to CLN3 Pathogenic Variants in a French Retinitis Pigmentosa Cohort.
Smirnov VM et al.
Jama Ophthalmology, 2021
High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses.
Jilani A et al.
Jimd Reports, 2019
Considerations in multi-gene panel testing in pediatric ophthalmology.
Turriff AE et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2019
Carrier testing for severe childhood recessive diseases by next-generation sequencing.
Bell CJ et al.
Science Translational Medicine, 2011
Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X).
Sarpong A et al.
Clinical Genetics, 2009
Select a paper to view details