2018-06 | Genotype and Phenotype Spectrum of FRMD7-Associated Infantile Nystagmus Syndrome | Choi, Jae-Hwan; Jung, Jae-Ho; Oh, Eun Hye; Shin, Jin-Hong; Kim, Hyang-Sook; Seo, Je Hyun; Choi, Seo Young; Kim, Min-Ji; Choi, Hee Young; Lee, Changwook; Choi, Kwang-Dong | ARTICLE | 395 |
2018-12 | Identification of a novel GPR143 mutation in X-linked ocular albinism with marked intrafamilial phenotypic variability | Jung, Jae-Ho; Oh, Eun Hye; Shin, Jin-Hong; Kim, Hyang-Sook; Choi, Seo Young; Choi, Kwang-Dong; Lee, Changwook; Choi, Jae-Hwan | ARTICLE | 310 |
2020-02 | Impaired DNA-binding affinity of novel PAX6 mutations | Lee, Seowhang; Lee, Seung-Han; Heo, Hwan; Oh, Eun Hye; Shin, Jin-Hong; Kim, Hyang-Sook; Jung, Jae-Ho; Choi, Seo Young; Choi, Kwang-Dong; Lee, Hakbong; Lee, Changwook; Choi, Jae-Hwan | ARTICLE | 44 |
2020-01 | Rare Variants of Putative Candidate Genes Associated With Sporadic Meniere's Disease in East Asian Population | Oh, Eun Hye; Shin, Jin-Hong; Kim, Hyang-Sook; Cho, Jae Wook; Choi, Seo Young; Choi, Kwang-Dong; Rhee, Je-Keun; Lee, Seowhang; Lee, Changwook; Choi, Jae-Hwan | ARTICLE | 153 |