Browsing "1. Journal Papers" by Author : 105

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Issue DateTitleJournal Title
2020Copy Number Variations and Multiallelic Variants in Korean Patients With Leber Congenital Amaurosis MOLECULAR VISION
2017Diagnostic application of clinical exome sequencing in Leber congenital amaurosis MOLECULAR VISION
2022Genetic spectrum and characteristics of autosomal optic neuropathy in Korean: Use of next-generation sequencing in suspected hereditary optic atrophy FRONTIERS IN NEUROLOGY
2023Next-Generation Sequencing of Vitreoretinal Lymphoma by Vitreous Liquid Biopsy: Diagnostic Potential and Genotype/Phenotype Correlation INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
2022Noncanonical Splice Site and Deep Intronic FRMD7 Variants Activate Cryptic Exons in X-linked Infantile Nystagmus TRANSLATIONAL VISION SCIENCE & TECHNOLOGY
2022Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort GENES
2021Serial Detection of MYD88 L265P Mutation in the Aqueous Humor of a Patient with Vitreoretinal Lymphoma for Disease MonitoringOCULAR IMMUNOLOGY AND INFLAMMATION
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