Eiji Nanba

Tottori, Japan

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 86 publications

Reply to: "When neutral isn't negative: missteps in survey data analysis".

Reply to: "When neutral isn't negative: missteps in survey data analysis".

Journal: Brain & development

Published: October 16, 2025

Neutral sp2-iminosugars exploiting non-glycone interactions for selective acid α- and β-glucosidase activity modulation: Pharmacological chaperones for Gaucher and Pompe diseases.

Neutral sp2-iminosugars exploiting non-glycone interactions for selective acid α- and β-glucosidase activity modulation: Pharmacological chaperones for Gaucher and Pompe diseases.

Journal: European journal of medicinal chemistry

Published: July 23, 2025

Japanese pediatric neurologist's decision regarding genetic testing for patients with developmental delay/intellectual disability: A nationwide survey.

Japanese pediatric neurologist's decision regarding genetic testing for patients with developmental delay/intellectual disability: A nationwide survey.

Journal: Brain & development

Published: February 11, 2025

Awareness and knowledge of pediatricians regarding genetic testing for Fragile X syndrome in Japan: A National Survey of Pediatricians Managing Developmental Delay/Intellectual disability.

Awareness and knowledge of pediatricians regarding genetic testing for Fragile X syndrome in Japan: A National Survey of Pediatricians Managing Developmental Delay/Intellectual disability.

Journal: Brain & development

Published: October 13, 2024

Difficulties in disclosing secondary findings by facilities performing comprehensive germline genetic testing for rare diseases in Japan.

Difficulties in disclosing secondary findings by facilities performing comprehensive germline genetic testing for rare diseases in Japan.

Journal: Congenital anomalies

Published: December 20, 2023

Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation DNA sequencing.

Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation DNA sequencing.

Journal: Nucleic acids research

Published: December 11, 2022

Association of IL-4 with pachychoroid neovasculopathy.

Association of IL-4 with pachychoroid neovasculopathy.

Journal: Scientific reports

Published: August 29, 2022

Challenges of secondary finding disclosure in genomic medicine in rare diseases: A nation-wide survey of Japanese facilities outsourcing comprehensive genetic testing.

Challenges of secondary finding disclosure in genomic medicine in rare diseases: A nation-wide survey of Japanese facilities outsourcing comprehensive genetic testing.

Journal: Journal of human genetics

Published: July 13, 2022

sp2-Iminosugars targeting human lysosomal β-hexosaminidase as pharmacological chaperone candidates for late-onset Tay-Sachs disease.

sp2-Iminosugars targeting human lysosomal β-hexosaminidase as pharmacological chaperone candidates for late-onset Tay-Sachs disease.

Journal: Journal of enzyme inhibition and medicinal chemistry

Published: May 16, 2022

Clinical course of a Japanese patient with developmental delay linked to a small 6q16.1 deletion.

Clinical course of a Japanese patient with developmental delay linked to a small 6q16.1 deletion.

Journal: Human genome variation

Published: April 18, 2022

Reply to the letter: "A case of infantile Tay-Sachs disease with late onset spasms".

Reply to the letter: "A case of infantile Tay-Sachs disease with late onset spasms".

Journal: Brain & development

Published: July 20, 2021

Clinical course of epilepsy and white matter abnormality linked to a novel DYRK1A variant.

Clinical course of epilepsy and white matter abnormality linked to a novel DYRK1A variant.

Journal: Human genome variation

Published: March 26, 2021

Showing 1-12 of 86

Last Updated: 09/26/2026