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Sponsored Artificial Intelligence: A Modern Approach, Global Edition Artificial Intelligence: A Modern Approach, Global Edition

Author

S. Woo

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2 papers indexed here

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Review Open access Oct 2026

Allelic Architecture and Clinical Spectrum of RP1-Associated Retinal Dystrophies in a Multicenter Korean Cohort.

Purpose To define the allelic architecture and phenotypic spectrum of RP1-associated retinal dystrophies in a large Korean cohort, emphasizing recurrent truncating alleles, phasing of linked variants, and mobile-element insertions (MEIs) underdetected by standard next-generation sequencing. Methods This retrospective...

Yunnie Cho, Kwangsic Joo, Sohee Jeon et al. · 0 citations
Sep 2026

EYS-associated retinal degeneration in South Korea: Genetic, Phenotype, and Natural History.

PURPOSE To delineate the clinical and genetic spectrum of EYS-associated retinal degeneration (EYS-RD) and to quantify longitudinal progression of retinal structure and visual function. DESIGN, SETTING, AND PARTICIPANTS Multicenter retrospective cohort study at eight tertiary referral centers in South Korea, enrollin...

Jehwi Jeon, Dongheon Surl, H. Park et al. · 0 citations

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