Tomoko Horinouchi

Chuo, 6500017, Japan

Last Updated: 09/26/2026

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Found 134 publications

Clinical and genetic characteristics of hypoparathyroidism, deafness, and renal dysplasia syndrome in a chronic kidney disease cohort.

Clinical and genetic characteristics of hypoparathyroidism, deafness, and renal dysplasia syndrome in a chronic kidney disease cohort.

Journal: Pediatric nephrology (Berlin, Germany)

Published: May 30, 2026

Clinical and functional evaluation of non-missense MYH9 variants in MYH9-related disease.

Clinical and functional evaluation of non-missense MYH9 variants in MYH9-related disease.

Journal: Clinical and experimental nephrology

Published: April 02, 2026

A deep intronic IFT172 variant causing pseudoexon inclusion identified by whole-genome sequencing in nephronophthisis.

A deep intronic IFT172 variant causing pseudoexon inclusion identified by whole-genome sequencing in nephronophthisis.

Journal: CEN case reports

Published: March 15, 2026

Functional Analysis of a Novel Pathogenic Glycine Amidinotransferase Mutant in Hereditary Fanconi Syndrome.

Functional Analysis of a Novel Pathogenic Glycine Amidinotransferase Mutant in Hereditary Fanconi Syndrome.

Journal: Kidney medicine

Published: March 05, 2026

Genetic Screening of Patients With Inherited Fanconi Syndrome.

Genetic Screening of Patients With Inherited Fanconi Syndrome.

Journal: Kidney international reports

Published: February 17, 2026

'Missing' disease-causing variants in Alport syndrome.

'Missing' disease-causing variants in Alport syndrome.

Journal: Nature reviews. Nephrology

Published: February 09, 2026

Kidney outcomes of coenzyme Q10 supplementation in patients with genetically confirmed CoQ10 nephropathy in Japan.

Kidney outcomes of coenzyme Q10 supplementation in patients with genetically confirmed CoQ10 nephropathy in Japan.

Journal: Clinical and experimental nephrology

Published: January 10, 2026

Pediatric coronavirus disease 2019 clinical characteristics in a primary emergency medical center: Comparative analysis of BA.1/BA.2, BA.5/BQ.1, and XBB periods.

Pediatric coronavirus disease 2019 clinical characteristics in a primary emergency medical center: Comparative analysis of BA.1/BA.2, BA.5/BQ.1, and XBB periods.

Journal: Journal of infection and chemotherapy : official journal of the Japan Society of Chemotherapy

Published: December 29, 2025

Nephrin-IgG co-localization expression in pediatric steroid-resistant nephrotic syndrome: a case series from Indonesia.

Nephrin-IgG co-localization expression in pediatric steroid-resistant nephrotic syndrome: a case series from Indonesia.

Journal: CEN case reports

Published: December 26, 2025

Clinical and Genetic Insights Into Isolated Proteinuria With CUBN Variants.

Clinical and Genetic Insights Into Isolated Proteinuria With CUBN Variants.

Journal: Kidney international reports

Published: December 12, 2025

Leveraging genomic biobanks to enhance genetic testing outcomes for kidney disease.

Leveraging genomic biobanks to enhance genetic testing outcomes for kidney disease.

Journal: medRxiv : the preprint server for health sciences

Published: November 26, 2025

Clinical practice guideline for pediatric IgA vasculitis in Japan 2023: a digest-secondary publication.

Clinical practice guideline for pediatric IgA vasculitis in Japan 2023: a digest-secondary publication.

Journal: Clinical and experimental nephrology

Published: November 24, 2025

Showing 1-12 of 134

Last Updated: 09/26/2026