Hiroki Ura

Kanazawa, Japan

Last Updated: 09/26/2026

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Found 43 publications

Clonal Evolution of Endometriosis to Peritoneal Endometrioid Carcinoma via PTEN Biallelic Inactivation: A Case Report With Integrated Genomic and Pathological Profiling.

Clonal Evolution of Endometriosis to Peritoneal Endometrioid Carcinoma via PTEN Biallelic Inactivation: A Case Report With Integrated Genomic and Pathological Profiling.

Journal: JCO precision oncology

Published: June 08, 2026

Integrated targeted whole-genome and RNA-sequencing analysis of an intronic GNE variant in GNE myopathy.

Integrated targeted whole-genome and RNA-sequencing analysis of an intronic GNE variant in GNE myopathy.

Journal: Human genome variation

Published: January 13, 2026

A case of hereditary hemorrhagic telangiectasia with ACVRL1 gene variant.

A case of hereditary hemorrhagic telangiectasia with ACVRL1 gene variant.

Journal: Dermatology reports

Published: October 13, 2025

A Case of Multifocal Venous Malformation With Two Somatic Pathogenic Variants in the TEK Gene.

A Case of Multifocal Venous Malformation With Two Somatic Pathogenic Variants in the TEK Gene.

Journal: The Journal of dermatology

Published: July 22, 2025

A Case of Prolidase Deficiency With Long-Term Clinical Follow-Up.

A Case of Prolidase Deficiency With Long-Term Clinical Follow-Up.

Journal: The Journal of dermatology

Published: April 21, 2025

A Case of Pseudoxanthoma Elasticum Caused by a Novel Structural Variant of the ABCC6 Gene.

A Case of Pseudoxanthoma Elasticum Caused by a Novel Structural Variant of the ABCC6 Gene.

Journal: The Journal of dermatology

Published: March 27, 2025

Computational Comparison of Differential Splicing Tools for Targeted RNA Long-Amplicon Sequencing (rLAS).

Computational Comparison of Differential Splicing Tools for Targeted RNA Long-Amplicon Sequencing (rLAS).

Journal: International journal of molecular sciences

Published: January 22, 2025

Integrated Analysis of Somatic DNA Variants and DNA Methylation of Tumor Suppressor Genes in Colorectal Cancer.

Integrated Analysis of Somatic DNA Variants and DNA Methylation of Tumor Suppressor Genes in Colorectal Cancer.

Journal: International journal of molecular sciences

Published: January 06, 2025

CYLD novel splicing mutation in a patient with CYLD cutaneous syndrome with basal cell carcinomas.

CYLD novel splicing mutation in a patient with CYLD cutaneous syndrome with basal cell carcinomas.

Journal: The Journal of dermatology

Published: July 31, 2024

Comparison of RNA-Sequencing Methods for Degraded RNA.

Comparison of RNA-Sequencing Methods for Degraded RNA.

Journal: International journal of molecular sciences

Published: May 02, 2024

Establishment of a human induced pluripotent stem cell line, KMUGMCi009-A, from a patient bearing a missense mutation in the MED12 gene leading X-linked Ohdo syndrome.

Establishment of a human induced pluripotent stem cell line, KMUGMCi009-A, from a patient bearing a missense mutation in the MED12 gene leading X-linked Ohdo syndrome.

Journal: Stem cell research

Published: March 20, 2024

Establishment of a human induced pluripotent stem cell line, KMUGMCi010-A, from a patient with X-linked Ohdo syndrome bearing missense mutation in the MED12 gene.

Establishment of a human induced pluripotent stem cell line, KMUGMCi010-A, from a patient with X-linked Ohdo syndrome bearing missense mutation in the MED12 gene.

Journal: Stem cell research

Published: January 14, 2024

Showing 1-12 of 43

Last Updated: 09/26/2026