Kei Mizobuchi

39PUBLICATIONS
184CO-AUTHORS
SexualitiesMedical parasitologyOptical technologyGene expression (incl. microarray and other genome-wide approaches)Epigenetics (incl. genome methylation and epigenomics)
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Publications (39)

|Sep 16, 2026
Somatic mosaicism and skewed X-chromosome inactivation associated with male-pattern choroideremia phenotype in a female patient.

|Jun 19, 2026
Clinical course of a patient with PRSS56-associated nanophthalmos (isolated microphthalmia) and uveal effusion syndrome.

|May 01, 2026
Gyrate Atrophy of the Choroid and Retina Diagnosed in Adulthood With a Homozygous OAT Variant: A Case Report Highlighting the Need for Long-Term Care.

|Jan 19, 2026
Clinical and genetic characterization of REEP6-associated retinopathy in a Japanese cohort.

Takeru Tsuboi, Kei Mizobuchi, Kazutoshi Yoshitake

|Dec 17, 2025
A de novo splice-site variant in the retinitis pigmentosa 2 (RP2) gene identified in a symptomatic carrier woman.

Aya Domoto, Kazuki Kuniyoshi, Akiko Suga

|Nov 25, 2025
Limitations of short-read NGS in detecting RP1 Alu insertions: a case emphasizing Sanger confirmation.

Takaaki Hayashi, Kei Mizobuchi, Natsuki Higa

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Frequent Collaborators

35 joint publications

Takaaki Hayashi

8 joint publications

Satoshi Katagiri

5 joint publications

Kazuki Kuniyoshi

5 joint publications

Yoshihiro Hotta