Tomohiro Chiyonobu
11PUBLICATIONS
8CO-AUTHORS
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Publications (11)
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|Mar 08, 2025
Functional verification and allele-specific silencing of a novel AKT3 variant that causes megalencephaly, polymicrogyria and intractable epilepsy.Yosuke Miyamoto, Takenori Tozawa, Eisuke Ichise
|Nov 28, 2024
Simultaneous surgery for gastrostomy and laryngotracheal separation in a patient with Tay‒Sachs disease.Masaharu Moroto, Uda Daisuke, Tomoya Yodoi
|Nov 07, 2024
A mild case of Cockayne syndrome with a novel start-loss variant of ERCC8.Taro Matsuoka, Takeshi Yoshida, Kengo Kora
|Feb 26, 2024
Bilateral choroid plexus resection in a 9p hexasomy/tetrasomy mosaic patient.Rei Takada, Takenori Tozawa, Takumi Yamanaka
|Aug 21, 2023
Leigh-like syndrome with progressive cerebellar atrophy caused by novel HIBCH variants.Yoshihiro Taura, Takenori Tozawa, Kenichi Isoda
|Jun 06, 2022
Thyroid hypogenesis is associated with a novel AKT3 germline variant that causes megalencephaly and cortical malformation.Jun Mori, Tatsuji Hasegawa, Yosuke Miyamoto
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