Associated Papers
Longitudinal assessment of female carriers of choroideremia using multimodal retinal imaging.
Gocuk SA et al.
The British Journal of Ophthalmology, 2025
Is subretinal AAV gene replacement still the only viable treatment option for choroideremia?
Han RC et al.
Expert Opinion on Orphan Drugs, 2021
Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degeneration.
Jamshidi F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing.
Hosono K et al.
Scientific Reports, 2018
29844330 (PubMed )
Supplement: 41598_2018_26524_MOESM1_ESM.docx
Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis.
Hosono K et al.
Journal of Ophthalmology, 2015
A novel splice-site mutation of TULP1 underlies severe early-onset retinitis pigmentosa in a consanguineous Israeli Muslim Arab family.
Abbasi AH et al.
Molecular Vision, 2008
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