Akira Inaba

Kyoto, Japan

Last Updated: 09/26/2026

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Found 13 publications

Case report: Duplication of the GCK gene is a novel cause of nesidioblastosis: evidence from a case with Silver-Russell syndrome-like phenotype related to chromosome 7.

Case report: Duplication of the GCK gene is a novel cause of nesidioblastosis: evidence from a case with Silver-Russell syndrome-like phenotype related to chromosome 7.

Journal: Frontiers in endocrinology

Published: May 12, 2024

Copy number variant detection using next-generation sequencing in EYS-associated retinitis pigmentosa.

Copy number variant detection using next-generation sequencing in EYS-associated retinitis pigmentosa.

Journal: PloS one

Published: March 12, 2024

Qualitative analysis of the needs of parents of children with rare genetic diseases, following their diagnosis obtained by whole-exome sequencing.

Qualitative analysis of the needs of parents of children with rare genetic diseases, following their diagnosis obtained by whole-exome sequencing.

Journal: Journal of genetic counseling

Published: February 25, 2024

A case of the successful treatment of severe myoclonus with Lance-Adams syndrome by add-on perampanel showing long term effects

A case of the successful treatment of severe myoclonus with Lance-Adams syndrome by add-on perampanel showing long term effects

Journal: Rinsho shinkeigaku = Clinical neurology

Published: December 17, 2020

Perception of genetic testing among patients with inherited retinal disease: Benefits and challenges in a Japanese population.

Perception of genetic testing among patients with inherited retinal disease: Benefits and challenges in a Japanese population.

Journal: Journal of genetic counseling

Published: December 07, 2020

Truncating Variants Contribute to Hearing Loss and Severe Retinopathy in USH2A-Associated Retinitis Pigmentosa in Japanese Patients.

Truncating Variants Contribute to Hearing Loss and Severe Retinopathy in USH2A-Associated Retinitis Pigmentosa in Japanese Patients.

Journal: International journal of molecular sciences

Published: September 11, 2020

Ethical and professional challenges encountered by Japanese healthcare professionals who provide genetic counseling services.

Ethical and professional challenges encountered by Japanese healthcare professionals who provide genetic counseling services.

Journal: Journal of genetic counseling

Published: June 04, 2019

Development of a molecular diagnostic test for Retinitis Pigmentosa in the Japanese population.

Development of a molecular diagnostic test for Retinitis Pigmentosa in the Japanese population.

Journal: Japanese journal of ophthalmology

Published: September 11, 2017

Isotopic localization of the partially deuterated methyl group in solid methanol and methyl iodide.

Isotopic localization of the partially deuterated methyl group in solid methanol and methyl iodide.

Journal: The Journal of chemical physics

Published: May 08, 2017

Calorimetric measurements on Li4C60 and Na4C60.

Calorimetric measurements on Li4C60 and Na4C60.

Journal: The Journal of chemical physics

Published: May 03, 2015

Two-dimensional solid-state topochemical reactions of 10,12-pentacosadiyn-1-ol adsorbed on graphite.

Two-dimensional solid-state topochemical reactions of 10,12-pentacosadiyn-1-ol adsorbed on graphite.

Journal: Langmuir : the ACS journal of surfaces and colloids

Published: February 28, 2014

Effects of carboxylate anions on the molecular organization of H2O as probed by 1-propanol.

Effects of carboxylate anions on the molecular organization of H2O as probed by 1-propanol.

Journal: The journal of physical chemistry. B

Published: February 29, 2012

Showing 1-12 of 13

Last Updated: 09/26/2026