Seiji Mizuno
8PUBLICATIONS
52CO-AUTHORS
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Publications (8)
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|Dec 17, 2025
Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders.Yukina Hayashi, Kenta Kajiwara, Seiji Mizuno
|Oct 12, 2022
Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction.Masanori Fujimoto, Yuji Nakamura, Toshihiko Iwaki
|Sep 16, 2022
Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome.Shiomi Otsuji, Yosuke Nishio, Maki Tsujita
|Jan 14, 2022
Target enrichment long-read sequencing with adaptive sampling can determine the structure of the small supernumerary marker chromosomes.Tasuku Mariya, Takema Kato, Takeshi Sugimoto
|Dec 23, 2020
Digenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome.Yasuyoshi Oka, Motoharu Hamada, Yuka Nakazawa
|Oct 29, 2020
Role of chimeric transcript formation in the pathogenesis of birth defects.Mamiko Yamada, Hisato Suzuki, Akiko Watanabe
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Frequent Collaborators
3 joint publications
Shinji Saitoh
2 joint publications
Naomichi Matsumoto
2 joint publications
Satoko Miyatake
2 joint publications
Kohji Kato
1 joint publications
Kenjiro Kosaki
1 joint publications
Yasuyoshi Oka
1 joint publications
Masashi Akiyama
1 joint publications
Yusuke Okuno
1 joint publications
Taichi Hirano
1 joint publications
Takuya Ichimura
