kei mizobuchi

Jikei University School of Medicine

Japan

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Articles (13)

Year:

2024

Year:

2024

Year:

2024

Year:

2023

Year:

2023

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2023

Year:

2023

Year:

2023

Year:

2023

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2022

Year:

2022

Year:

2022

Year:

2021

Collaborators (6)

Yoshihiro Hotta

Hamamatsu University School of Medicine

JAPAN

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Shunji Kusaka

Professor

Kindai University Faculty of Medicine

JAPAN

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Tsutomu Yasukawa

Nagoya University

JAPAN

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Hirotomo Saitsu

Hamamatsu University School of Medicine

JAPAN

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Ichiro Morioka

JAPAN

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Mineo Kondo

Mie University Graduate School of Medicine

JAPAN

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kei mizobuchi

Research Interests

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Articles (13)

Genetic and Clinical Features of ABCA4-Associated Retinopathy in a Japanese Nationwide Cohort

Clinical course of two siblings with potassium voltage-gated channel modifier subfamily V member 2 (KCNV2)-associated retinopathy

A homozygous structural variant of RPGRIP1 is frequently associated with achromatopsia in Japanese patients with IRD

One-Year Outcomes of Oral Treatment With Alga Capsules Containing Low Levels of 9-cis-β-Carotene in RDH5-Related Fundus Albipunctatus

The Structural Abnormalities Are Deeply Involved in the Cause of RPGRIP1-Related Retinal Dystrophy in Japanese Patients

A novel stop-gain NF1 variant in neurofibromatosis type 1 and bilateral optic atrophy without optic gliomas

A mild form of POC1B-associated retinal dystrophy with relatively preserved cone system function

Electroretinographic abnormalities in Alport syndrome with a novel COL4A5 truncated variant (p.Try20GlyfsTer19)

Bardet–Biedl syndrome associated with novel compound heterozygous variants in BBS12 gene

Multimodal Imaging of Subfoveal Pachydrusen Containing a Blood Flow Signal

Clinical characterization of autosomal dominant retinitis pigmentosa with NRL mutation in a three-generation Japanese family

Polypoidal choroidal vasculopathy in a patient with DMPK-associated myotonic dystrophy

Homozygous single nucleotide duplication of SLC38A8 in autosomal recessive foveal hypoplasia: The first Japanese case report

Collaborators (6)

Yoshihiro Hotta

Shunji Kusaka

Tsutomu Yasukawa

Hirotomo Saitsu

Ichiro Morioka

Mineo Kondo

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