Masakazu Kohda

R&D Group
Tokyo, Japan

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 46 publications

SNP associations in the L-citrulline metabolic pathway and vascular aging in the Japanese population.

SNP associations in the L-citrulline metabolic pathway and vascular aging in the Japanese population.

Journal: PloS one

Published: November 19, 2024

Difference in Age- and Sex-adjusted Prevalence of Diseases between Employees and Nonemployees with Health Insurance in Japan.

Difference in Age- and Sex-adjusted Prevalence of Diseases between Employees and Nonemployees with Health Insurance in Japan.

Journal: JMA journal

Published: September 24, 2024

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.

Journal: American journal of human genetics

Published: May 03, 2024

Establishment of preanalytical conditions for microRNA profile analysis of clinical plasma samples.

Establishment of preanalytical conditions for microRNA profile analysis of clinical plasma samples.

Journal: PloS one

Published: June 15, 2022

Author Correction: Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan.

Author Correction: Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan.

Journal: Scientific reports

Published: November 17, 2021

A Japanese patient with neonatal biotin-responsive basal ganglia disease.

A Japanese patient with neonatal biotin-responsive basal ganglia disease.

Journal: Human genome variation

Published: October 12, 2021

Valine metabolites analysis in ECHS1 deficiency.

Valine metabolites analysis in ECHS1 deficiency.

Journal: Molecular genetics and metabolism reports

Published: July 26, 2021

Immunohistochemical staining patterns of p53 predict the mutational status of TP53 in oral epithelial dysplasia.

Immunohistochemical staining patterns of p53 predict the mutational status of TP53 in oral epithelial dysplasia.

Journal: Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc

Published: April 20, 2021

Genome sequencing and RNA-seq analyses of mitochondrial complex I deficiency revealed Alu insertion-mediated deletion in NDUFV2.

Genome sequencing and RNA-seq analyses of mitochondrial complex I deficiency revealed Alu insertion-mediated deletion in NDUFV2.

Journal: Human mutation

Published: March 02, 2021

A high mutation load of m.14597A>G in MT-ND6 causes Leigh syndrome.

A high mutation load of m.14597A>G in MT-ND6 causes Leigh syndrome.

Journal: Scientific reports

Published: February 20, 2021

Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients.

Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients.

Journal: International journal of cardiology

Published: February 03, 2021

Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan.

Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan.

Journal: Scientific reports

Published: November 06, 2020

Showing 1-12 of 46

Last Updated: 09/26/2026