Yasuki Ishihara
5PUBLICATIONS
5CO-AUTHORS
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Publications (5)
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|Oct 16, 2023
A case of Marfanoid-progeroid-lipodystrophy syndrome: experimental proof of skipping exons and escaping nonsense-mediated decay.Takahito Moriwaki, Mitsuo Masuno, Miho Nagata
|Dec 05, 2022
Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis.Kaoru Eto, Osamu Machida, Tomoe Yanagishita
|Jul 25, 2022
A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome.Viktoriia Sofronova, Yu Fukushima, Mitsuo Masuno
|Nov 30, 2021
Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizures.Keiko Shimojima Yamamoto, Tomoe Yanagishita, Hisako Yamamoto
|May 07, 2021
A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting.Tomoe Yanagishita, Kaoru Eto, Keiko Yamamoto-Shimojima
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