Masanori Fujimoto

Nagoya University Graduate School of Medicine

Japan

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Articles (7)

Year:

2024

Year:

2024

Year:

2023

Year:

2023

Year:

2023

Year:

2022

Year:

2021

Collaborators (5)

Mizuki Honda

Assistant professor

Hiroshima University

JAPAN

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Shinji Saitoh

Nagoya University

JAPAN

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Tatsuhiko Tsunoda

Professor

University of Tokyo

JAPAN

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Shinya Oki

特定准教授 / Program-Specific Associate Professor

Kyoto University

JAPAN

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Issei Shimada

Junior Associate Professor

Nagoya University

JAPAN

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Masanori Fujimoto

Research Interests

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Articles (7)

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

Biallelic null variants in <i>PNPLA8</i> cause microcephaly by reducing the number of basal radial glia

Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction

Infected Splenic Artery Aneurysm Secondary to Infective Endarteritis in a Child with Supravalvular Aortic Stenosis

Novel SPEG variants in a neonate with severe dilated cardiomyopathy and relatively mild hypotonia.

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

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

Collaborators (5)

Mizuki Honda

Shinji Saitoh

Tatsuhiko Tsunoda

Shinya Oki

Issei Shimada

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