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Variants in KIF2A cause broad clinical presentation; the computational structural analysis of a novel variant in a patient with a cortical dysplasia, complex, with other brain malformations 3.
Hatano M, Fukushima H, Ohto T, Ueno Y, Saeki S, Enokizono T, Tanaka R, Tanaka M, Imagawa K, Kanai Y, Kato M, Shiraku H, Suzuki H, Uehara T, Takenouchi T, Kosaki K, Takada H. Hatano M, et al. Among authors: enokizono t. Am J Med Genet A. 2021 Apr;185(4):1113-1119. doi: 10.1002/ajmg.a.62084. Epub 2021 Jan 27. Am J Med Genet A. 2021. PMID: 33506645
Schuurs-Hoeijmakers syndrome in two patients from Japan.
Hoshino Y, Enokizono T, Imagawa K, Tanaka R, Suzuki H, Fukushima H, Arai J, Sumazaki R, Uehara T, Takenouchi T, Kosaki K. Hoshino Y, et al. Among authors: enokizono t. Am J Med Genet A. 2019 Mar;179(3):341-343. doi: 10.1002/ajmg.a.9. Epub 2018 Dec 27. Am J Med Genet A. 2019. PMID: 30588754
Novel ARX mutation identified in infantile spasm syndrome patient.
Takeshita Y, Ohto T, Enokizono T, Tanaka M, Suzuki H, Fukushima H, Uehara T, Takenouchi T, Kosaki K, Takada H. Takeshita Y, et al. Among authors: enokizono t. Hum Genome Var. 2020 Mar 31;7:9. doi: 10.1038/s41439-020-0094-2. eCollection 2020. Hum Genome Var. 2020. PMID: 32257294 Free PMC article.
[No title available]
[No authors listed] [No authors listed] PMID: 33420006
A patient with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and severe hypoganglionosis associated with a novel SOX10 mutation.
Akutsu Y, Shirai K, Takei A, Goto Y, Aoyama T, Watanabe A, Imamura M, Enokizono T, Ohto T, Hori T, Suzuki K, Hayashi M, Masumoto K, Inoue K. Akutsu Y, et al. Among authors: enokizono t. Am J Med Genet A. 2018 May;176(5):1195-1199. doi: 10.1002/ajmg.a.38657. Am J Med Genet A. 2018. PMID: 29681101
Novel ACOX1 mutations in two siblings with peroxisomal acyl-CoA oxidase deficiency.
Morita A, Enokizono T, Ohto T, Tanaka M, Watanabe S, Takada Y, Iwama K, Mizuguchi T, Matsumoto N, Morita M, Takashima S, Shimozawa N, Takada H. Morita A, et al. Among authors: enokizono t. Brain Dev. 2021 Mar;43(3):475-481. doi: 10.1016/j.braindev.2020.10.011. Epub 2020 Nov 21. Brain Dev. 2021. PMID: 33234382
24 results