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Japanese Journal of Ophthalmology|September 13, 2024
Ocular genetics in the Japanese populationYoshihiro Hotta, Kaoruko Torii, Masakazu TakayamaJournal of Human Genetics|September 15, 2025
Novel biallelic CDK9 variants are associated with retinal dystrophy without CHARGE-like malformation syndromeSachiko Nishina, Kaoruko Torii, Shizuka Ishitani, et al.Ophthalmic Genetics|November 7, 2022
A case of siblings with juvenile retinitis pigmentosa associated with NEK1 gene variantsAkiko Hikoya, Katsuhiro Hosono, Kaoru Ono, et al.Human Genome Variation|March 25, 2023
A pediatric case of congenital stromal corneal dystrophy caused by the novel variant c.953del of the DCN geneHazuki Morikawa, Sachiko Nishina, Kaoruko Torii, et al.Genes|February 25, 2022
Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3-Congenital Disorders of Glycosylation and RP1-Related Retinitis PigmentosaNobutaka Tachibana, Katsuhiro Hosono, Shuhei Nomura, et al.International Journal of Molecular Sciences|September 28, 2023
The Structural Abnormalities Are Deeply Involved in the Cause of RPGRIP1-Related Retinal Dystrophy in Japanese PatientsKaoruko Torii, Sachiko Nishina, Hazuki Morikawa, et al.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.NPJ Genomic Medicine|December 6, 2025
Clinical characteristics of EYS-associated retinal dystrophy in 291 Japanese patientsYoshito Koyanagi, Yusuke Murakami, Taro Kominami, 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.Pageof 1