| 発表者名 |
タイトル |
発表年度 |
|
Etheridge et al.
|
Ocular Evaluation and Genetic Test for an Early Alström Syndrome Diagnosis |
2020 |
|
Hagag et al.
|
Prospective Deep Phenotyping of Choroideremia Patients Using Multimodal Structure-function Approaches |
2020 |
|
Haseoka et al.
|
Usefulness of Handheld Electroretinogram System for Diagnosing Blue-cone Monochromatism in Children
|
2020
|
|
Katagiri et al.
|
RDH5-Related Fundus Albipunctatus in a Large Japanese Cohort
|
2020
|
|
Lang et al.
|
Genotype–Phenotype Spectrum in Isolated and Syndromic Nanophthalmos
|
2020
|
|
Özmert & Arslan
|
Management of Retinitis Pigmentosa by Wharton’s Jelly Derived Mesenchymal Stem Cells: Preliminary Clinical Results
|
2020
|
|
Endres et al.
|
New Variant of MELAS Syndrome with Executive Dysfunction, Heteroplasmic Point Mutation in the MT-ND4 Gene (m.12015T>C; p.Leu419Pro) and Comorbid Polyglandular Autoimmune Syndrome Type 2 |
2019 |
|
Mahroo et al.
|
Comparison of Peak Times of Photopic Flicker Electroretinogram Responses Recorded Using Conventional and Portable systems in Birdshot Chorioretinopathy
|
2019
|
|
Sheikh et al.
|
Homozygous Variant in ARL3 Causes Autosomal Recessive Cone Rod Dystrophy
|
2019
|
|
Biswas et al.
|
A Mutation in IFT43 Causes Non-syndromic Recessive Retinal Degeneration
|
2017
|
|
Asakawa & Ishikawa
|
Electroretinography and Pupillography in Unilateral Foveal Hypoplasia
|
2016
|
|
Ullah et al.
|
Mutations in Phosphodiesterase 6 Identified in Familial Cases of Retinitis Pigmentosa
|
2016
|
|
Maranhao et al.
|
Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing
|
2015
|
