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Scientific Reports|September 28, 2020
Genetic defects of CHM and visual acuity outcome in 24 choroideremia patients from 16 Japanese familiesTakaaki Hayashi, Shuhei Kameya, Kei Mizobuchi, et al.
Frontiers in Medicine|October 3, 2024
A novel <i>RPE65</i> variant p.(Ala391Asp) in Leber congenital amaurosis: a case report and literature review in JapanNatsuki Higa, Takaaki Hayashi, Kei Mizobuchi, et al.
International Journal of Molecular Sciences|March 29, 2019
X-linked Retinitis Pigmentosa in Japan: Clinical and Genetic Findings in Male Patients and Female CarriersKentaro Kurata, Katsuhiro Hosono, Takaaki Hayashi, et al.
Documenta Ophthalmologica. Advances in Ophthalmology|January 31, 2020
Novel biallelic splice-site BBS1 variants in Bardet-Biedle syndrome: a case report of the first Japanese patientSatoshi Katagiri, Katsuhiro Hosono, Takaaki Hayashi, et al.
Japanese Journal of Ophthalmology|March 28, 2026
Longitudinal evaluation of peripheral photoreceptor atrophy in fundus albipunctatusTakuhiro Hayakawa, Kei Mizobuchi, Takaaki Hayashi, et al.
Japanese Journal of Ophthalmology|January 19, 2026
Clinical and genetic characterization of REEP6-associated retinopathy in a Japanese cohortTakeru Tsuboi, Kei Mizobuchi, Kazutoshi Yoshitake, et al.
American Journal of Ophthalmology Case Reports|November 30, 2020
Unique and progressive retinal degeneration in a patient with cancer associated retinopathyKei Mizobuchi, Satoshi Katagiri, Takaaki Hayashi, et al.
Genetics in Medicine Open|December 13, 2024
A homozygous structural variant of <i>RPGRIP1</i> is frequently associated with achromatopsia in Japanese patients with IRDAkiko Suga, Kei Mizobuchi, Taiga Inooka, et al.
Frontiers in Medicine|November 30, 2023
Optical coherence tomography findings of the peripheral retina in patients with congenital X-linked retinoschisisAyaka Nakajima, Kazuki Kuniyoshi, Chiharu Iwahashi, et al.
International Journal of Molecular Sciences|February 22, 2020
Clinical Course and Electron Microscopic Findings in Lymphocytes of Patients with <i>DRAM2</i>-Associated RetinopathyKazuki Kuniyoshi, Takaaki Hayashi, Shuhei Kameya, et al.
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