Naomi Tsuchida

Yokohama City University Medical Center

Japan

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Articles (10)

Year:

2025

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2025

Year:

2025

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2025

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2025

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2024

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2024

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2024

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2024

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2023

Collaborators (11)

Tomoyuki Asano

Fukushima Medical University

JAPAN

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Mitsumasa Kishimoto

JAPAN

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Takeshi Mizuguchi

Associate Professor

Yokohama National University

JAPAN

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Atsushi Fujita

Yokohama National University

JAPAN

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Ken Nagahata

Sapporo Medical University

JAPAN

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Noriyuki Takahashi

Designated Lecturer

Nagoya University Graduate School of Medicine

JAPAN

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Mitsuhiro Kato

Professor

Showa University

JAPAN

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Yuri Uchiyama

Assistant professor

Yokohama City University Medical Center

JAPAN

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Naomichi Matsumoto

Professor and Chair

Yokohama City University Graduate School of Medicine

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Kazuharu Misawa

Associate Professor

Yokohama National University

JAPAN

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Eriko Koshimizu

Yokohama City University Graduate School of Medicine

JAPAN

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Naomi Tsuchida

Research Interests

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Articles (10)

Hemizygous SMARCA1 variants cause X-linked intellectual disability

Mosaic deletions detected by genome sequencing in two families

Biallelic TSEN2 variants causing pontocerebellar hypoplasia type 2

Triple mosaic variants of PURA in a patient with multiple congenital anomalies

A case of Baraitser–Winter cerebrofrontofacial syndrome diagnosed by whole-exome sequencing

Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling

Comment on: Efficient detection of somatic UBA1 variants and clinical scoring system predicting patients with variants in VEXAS syndrome: reply

Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability

Biallelic missense CEP55 variants cause prenatal MARCH syndrome.

Efficient detection of somatic UBA1 variants and clinical scoring system predicting patients with variants in VEXAS syndrome

Collaborators (11)

Tomoyuki Asano

Mitsumasa Kishimoto

Takeshi Mizuguchi

Atsushi Fujita

Ken Nagahata

Noriyuki Takahashi

Mitsuhiro Kato

Yuri Uchiyama

Naomichi Matsumoto

Kazuharu Misawa

Eriko Koshimizu

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