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2016 2
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Page 1
Gingival Pigmentation in a Boy.
Nakagawa T, Wada Y, Miura A, Numata-Uematsu Y, Niizuma H, Kure S. Nakagawa T, et al. Among authors: numata uematsu y. J Pediatr. 2021 Jul;234:274-275. doi: 10.1016/j.jpeds.2021.03.052. Epub 2021 Mar 29. J Pediatr. 2021. PMID: 33794216 No abstract available.
Comprehensive study of metabolic changes induced by a ketogenic diet therapy using GC/MS- and LC/MS-based metabolomics.
Akiyama M, Akiyama T, Saigusa D, Hishinuma E, Matsukawa N, Shibata T, Tsuchiya H, Mori A, Fujii Y, Mogami Y, Tokorodani C, Kuwahara K, Numata-Uematsu Y, Inoue K, Kobayashi K. Akiyama M, et al. Among authors: numata uematsu y. Seizure. 2023 Apr;107:52-59. doi: 10.1016/j.seizure.2023.03.014. Epub 2023 Mar 16. Seizure. 2023. PMID: 36958064 Free article.
A de novo U2AF2 heterozygous variant associated with hypomyelinating leukodystrophy.
Kuroda Y, Matsufuji M, Enomoto Y, Osaka H, Takanashi JI, Yamamoto T, Numata-Uematsu Y, Tabata K, Kurosawa K, Inoue K. Kuroda Y, et al. Among authors: numata uematsu y. Am J Med Genet A. 2023 Aug;191(8):2245-2248. doi: 10.1002/ajmg.a.63229. Epub 2023 May 3. Am J Med Genet A. 2023. PMID: 37134193 No abstract available.
Behavioral problems and family distress in tuberous sclerosis complex.
Uematsu M, Numata-Uematsu Y, Aihara Y, Kobayashi T, Fujikawa M, Togashi N, Shiihara T, Ohashi K, Hattori A, Saitoh S, Kure S. Uematsu M, et al. Among authors: numata uematsu y. Epilepsy Behav. 2020 Oct;111:107321. doi: 10.1016/j.yebeh.2020.107321. Epub 2020 Jul 19. Epilepsy Behav. 2020. PMID: 32698109
Genomic analysis identifies masqueraders of full-term cerebral palsy.
Takezawa Y, Kikuchi A, Haginoya K, Niihori T, Numata-Uematsu Y, Inui T, Yamamura-Suzuki S, Miyabayashi T, Anzai M, Suzuki-Muromoto S, Okubo Y, Endo W, Togashi N, Kobayashi Y, Onuma A, Funayama R, Shirota M, Nakayama K, Aoki Y, Kure S. Takezawa Y, et al. Among authors: numata uematsu y. Ann Clin Transl Neurol. 2018 Mar 26;5(5):538-551. doi: 10.1002/acn3.551. eCollection 2018 May. Ann Clin Transl Neurol. 2018. PMID: 29761117 Free PMC article.
The longest reported sibling survivors of a severe form of congenital myasthenic syndrome with the ALG14 pathogenic variant.
Katata Y, Uneoka S, Saijyo N, Aihara Y, Miyazoe T, Koyamaishi S, Oikawa Y, Ito Y, Abe Y, Numata-Uematsu Y, Takayama J, Kikuchi A, Tamiya G, Uematsu M, Kure S. Katata Y, et al. Among authors: numata uematsu y. Am J Med Genet A. 2022 Apr;188(4):1293-1298. doi: 10.1002/ajmg.a.62629. Epub 2021 Dec 31. Am J Med Genet A. 2022. PMID: 34971077
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