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American Journal of Ophthalmology|March 18, 2024
Genetic and Clinical Features of ABCA4-Associated Retinopathy in a Japanese Nationwide CohortKei Mizobuchi, Takaaki Hayashi, Koji Tanaka, et al.
Investigative Ophthalmology & Visual Science|April 2, 2020
RDH5-Related Fundus Albipunctatus in a Large Japanese CohortSatoshi Katagiri, Takaaki Hayashi, Masaki Nakamura, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|August 22, 2020
Clinical and genetic characteristics of 10 Japanese patients with PROM1-associated retinal disorder: A report of the phenotype spectrum and a literature review in the Japanese populationKaoru Fujinami, Akio Oishi, Lizhu Yang, et al.
Scientific Reports|June 14, 2020
Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype AssociationYu Fujinami-Yokokawa, Kaoru Fujinami, Kazuki Kuniyoshi, et al.
Translational Vision Science & Technology|August 22, 2020
Clinical and Genetic Characteristics of 15 Affected Patients From 12 Japanese Families with <i>GUCY2D</i>-Associated Retinal DisorderXiao Liu, Kaoru Fujinami, Kazuki Kuniyoshi, et al.
Scientific Reports|March 29, 2020
Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele FrequencyLizhu Yang, Kaoru Fujinami, Shinji Ueno, et al.
NPJ Genomic Medicine|December 6, 2025
Clinical characteristics of EYS-associated retinal dystrophy in 291 Japanese patientsYoshito Koyanagi, Yusuke Murakami, Taro Kominami, et al.
Ophthalmology. Retina|February 26, 2021
Genotype and Long-term Clinical Course of Bietti Crystalline Dystrophy in Korean and Japanese PatientsYusuke Murakami, Yoshito Koyanagi, Masatoshi Fukushima, et al.
American Journal of Ophthalmology|May 8, 2026
Genotype-phenotype correlations in RPGRIP1-associated retinal dystrophy in a nationwide Japanese cohortKei Mizobuchi, Taiga Inooka, Takuya Aoki, et al.
Journal of Medical Genetics|March 18, 2024
Disease-specific variant interpretation highlighted the genetic findings in 2325 Japanese patients with retinitis pigmentosa and allied diseasesKensuke Goto, Yoshito Koyanagi, Masato Akiyama, et al.
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