Kaoruko Torii
Hamamatsu, Japan
Last Updated: 09/26/2026
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Found 10 publications
Molecular and Clinical Analyses of 111 Patients with Bilateral Anterior-Segment Dysgenesis/Aniridia and Microphthalmia/Anophthalmia.
Journal: Ophthalmology science
Published: April 07, 2026
Genotype-Phenotype Correlations in RPGRIP1-Associated Retinal Dystrophy in a Nationwide Japanese Cohort.
Journal: American journal of ophthalmology
Published: January 29, 2026
Novel biallelic CDK9 variants are associated with retinal dystrophy without CHARGE-like malformation syndrome.
Journal: Journal of human genetics
Published: June 08, 2025
Clinical characteristics of EYS-associated retinal dystrophy in 291 Japanese patients.
Journal: NPJ genomic medicine
Published: May 14, 2025
Ocular genetics in the Japanese population.
Journal: Japanese journal of ophthalmology
Published: April 09, 2024
Genetic and Clinical Features of ABCA4-Associated Retinopathy in a Japanese Nationwide Cohort.
Journal: American journal of ophthalmology
Published: January 14, 2024
The Structural Abnormalities Are Deeply Involved in the Cause of RPGRIP1-Related Retinal Dystrophy in Japanese Patients.
Journal: International journal of molecular sciences
Published: July 22, 2023
A pediatric case of congenital stromal corneal dystrophy caused by the novel variant c.953del of the DCN gene.
Journal: Human genome variation
Published: January 21, 2023
A case of siblings with juvenile retinitis pigmentosa associated with NEK1 gene variants.
Journal: Ophthalmic genetics
Published: November 07, 2022
Showing 1-10 of 10
Last Updated: 09/26/2026