Yosuke Nishio

Nagoya University

Japan

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Articles (7)

Year:

2025

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2025

Year:

2025

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2025

Year:

2023

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2023

Year:

2020

Collaborators (8)

Shinji Saitoh

Nagoya University

JAPAN

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Kazunobu Sawamoto

Professor

Nagoya University

JAPAN

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Peter J. Cullen

UNITED KINGDOM

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Kevin Wilkinson

Academic , Lecturer in Molecular Neuroscience

University of Bristol

UNITED KINGDOM

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Ryosuke Kobayashi

Assistant Professor

Rakuno Gakuen University

JAPAN

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Mitsuharu Hattori

Professor

Nagoya University

JAPAN

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Takeshi Takarada

Professor

Okayama University

JAPAN

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Yoshihiro Onouchi

Professor

Chiba University Graduate School of Medicine

JAPAN

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Yosuke Nishio

Research Interests

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Articles (7)

Ritscher-Schinzel syndrome can be characterized as an endosomal recyclinopathy

TFIIH-p52∆C defines a ninth xeroderma pigmentosum complementation-group XP-J and restores TFIIH stability to p8-defective trichothiodystrophy

De novo CDKN1C variant in Beckwith–Wiedermann spectrum with atypical complications

Novel FBN1 intron variant causes isolated ectopia lentis via in-frame exon skipping

Gain-of-function MYCN causes a megalencephaly-polydactyly syndrome manifesting mirror phenotypes of Feingold syndrome

Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome

The eldest case of MICPCH with CASK mutation exhibiting gross motor regression.

Collaborators (8)

Shinji Saitoh

Kazunobu Sawamoto

Peter J. Cullen

Kevin Wilkinson

Ryosuke Kobayashi

Mitsuharu Hattori

Takeshi Takarada

Yoshihiro Onouchi

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