Yuji Nakamura

Nagoya, Japan

Last Updated: 09/26/2026

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Found 26 publications

Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant.

Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant.

Journal: Human genome variation

Published: December 17, 2025

Brain organoid models of SZT2-related disease reveal an overproduction of outer radial glial cells through mTORC1 activation.

Brain organoid models of SZT2-related disease reveal an overproduction of outer radial glial cells through mTORC1 activation.

Journal: Scientific reports

Published: August 31, 2025

High-sensitivity measurement of Zeeman effect using hydrogen Paschen-α emission line in fusion-divertor-relevant plasma.

High-sensitivity measurement of Zeeman effect using hydrogen Paschen-α emission line in fusion-divertor-relevant plasma.

Journal: The Review of scientific instruments

Published: December 11, 2024

Genotype-phenotype correlation over time in Angelman syndrome: Researching 134 patients.

Genotype-phenotype correlation over time in Angelman syndrome: Researching 134 patients.

Journal: HGG advances

Published: April 01, 2024

Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia.

Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia.

Journal: Brain : a journal of neurology

Published: May 18, 2023

Correction: Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction.

Correction: Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction.

Journal: Journal of human genetics

Published: December 01, 2022

Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction.

Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction.

Journal: Journal of human genetics

Published: July 25, 2022

Spatially resolved measurement of helium atom emission line spectrum in scrape-off layer of Heliotron J by near-infrared Stokes spectropolarimetry.

Spatially resolved measurement of helium atom emission line spectrum in scrape-off layer of Heliotron J by near-infrared Stokes spectropolarimetry.

Journal: Scientific reports

Published: May 08, 2022

Whole-exome analysis of 177 pediatric patients with undiagnosed diseases.

Whole-exome analysis of 177 pediatric patients with undiagnosed diseases.

Journal: Scientific reports

Published: November 24, 2021

Long-term follow-up of a patient with autosomal dominant lower extremity-predominant spinal muscular atrophy-2 due to a BICD2 variant.

Long-term follow-up of a patient with autosomal dominant lower extremity-predominant spinal muscular atrophy-2 due to a BICD2 variant.

Journal: Brain & development

Published: October 19, 2021

Fluctuation and extinction of laminar diffusion flame induced by external acoustic wave and source.

Fluctuation and extinction of laminar diffusion flame induced by external acoustic wave and source.

Journal: Scientific reports

Published: May 09, 2021

Utility of breakpoint-specific nested polymerase chain reaction for the diagnosis of Emanuel syndrome.

Utility of breakpoint-specific nested polymerase chain reaction for the diagnosis of Emanuel syndrome.

Journal: Pediatrics international : official journal of the Japan Pediatric Society

Published: December 03, 2020

Showing 1-12 of 26

Last Updated: 09/26/2026