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Did you mean misato suzuki[Author] (6 results)?
Vanishing basal ganglia in ATP1A3-related polymicrogyria.
Ogawa E, Sakaguchi Y, Enokizono M, Yoshihashi H, Yamada M, Suzuki H, Kosaki K, Miyama S, Takenouchi T. Ogawa E, et al. Among authors: suzuki h. Am J Med Genet A. 2022 Feb;188(2):665-667. doi: 10.1002/ajmg.a.62531. Epub 2021 Oct 11. Am J Med Genet A. 2022. PMID: 34633143 No abstract available.
Medical genetics and genomic medicine in Japan.
Suzuki H, Watanabe T, Uehara T, Kosaki K. Suzuki H, et al. Am J Med Genet C Semin Med Genet. 2019 Jun;181(2):166-169. doi: 10.1002/ajmg.c.31702. Epub 2019 May 21. Am J Med Genet C Semin Med Genet. 2019. PMID: 31111991 Review.
Heterozygous loss-of-function DHX9 variants are associated with neurodevelopmental disorders: Human genetic and experimental evidences.
Yamada M, Nitta Y, Uehara T, Suzuki H, Miya F, Takenouchi T, Tamura M, Ayabe S, Yoshiki A, Maeno A, Saga Y, Furuse T, Yamada I, Okamoto N, Kosaki K, Sugie A. Yamada M, et al. Among authors: suzuki h. Eur J Med Genet. 2023 Aug;66(8):104804. doi: 10.1016/j.ejmg.2023.104804. Epub 2023 Jun 25. Eur J Med Genet. 2023. PMID: 37369308
A novel variant of ARPC4-related neurodevelopmental disorder.
Kuroda Y, Kumaki T, Saito Y, Enomoto Y, Suzuki H, Takenouchi T, Kosaki K, Kurosawa K. Kuroda Y, et al. Among authors: suzuki h. Am J Med Genet A. 2023 Mar;191(3):893-895. doi: 10.1002/ajmg.a.63082. Epub 2022 Dec 13. Am J Med Genet A. 2023. PMID: 36513617 No abstract available.
BCS1L mutations produce Fanconi syndrome with developmental disability.
Kanako KI, Sakakibara N, Murayama K, Nagatani K, Murata S, Otake A, Koga Y, Suzuki H, Uehara T, Kosaki K, Yoshiura KI, Mishima H, Ichimiya Y, Mushimoto Y, Horinouchi T, Nagano C, Yamamura T, Iijima K, Nozu K. Kanako KI, et al. Among authors: suzuki h. J Hum Genet. 2022 Mar;67(3):143-148. doi: 10.1038/s10038-021-00984-0. Epub 2021 Oct 15. J Hum Genet. 2022. PMID: 34650211
96 results