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List of works by Tomoko Horinouchi

Clinical and genetic variability of PAX2-related disorder in the Japanese population

scientific article published on 16 March 2020

Determination of the pathogenicity of known COL4A5 intronic variants by in vitro splicing assay

scientific article published on 03 September 2019

Development of an exon skipping therapy for X-linked Alport syndrome with truncating variants in COL4A5

scientific article published on 02 June 2020

Genetic background, recent advances in molecular biology, and development of novel therapy in Alport syndrome

scientific article published on 20 November 2020

Male CDPX2 patient with EBP mosaicism and asymmetrically lateralized skin lesions with strict midline demarcation

scientific article published on 29 April 2019

Pathogenic evaluation of synonymous COL4A5 variants in X-linked Alport syndrome using a minigene assay

scientific article published on 16 June 2020

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