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Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2).
Yamoto K, Saitsu H, Nishimura G, Kosaki R, Takayama S, Haga N, Tonoki H, Okumura A, Horii E, Okamoto N, Suzumura H, Ikegawa S, Kato F, Fujisawa Y, Nagata E, Takada S, Fukami M, Ogata T. Yamoto K, et al. Among authors: okumura a. Eur J Hum Genet. 2019 Dec;27(12):1845-1857. doi: 10.1038/s41431-019-0473-7. Epub 2019 Jul 22. Eur J Hum Genet. 2019. PMID: 31332306 Free PMC article.
Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders.
Yamamoto T, Imaizumi T, Yamamoto-Shimojima K, Lu Y, Yanagishita T, Shimada S, Chong PF, Kira R, Ueda R, Ishiyama A, Takeshita E, Momosaki K, Ozasa S, Akiyama T, Kobayashi K, Oomatsu H, Kitahara H, Yamaguchi T, Imai K, Kurahashi H, Okumura A, Oguni H, Seto T, Okamoto N. Yamamoto T, et al. Among authors: okumura a. Brain Dev. 2019 Oct;41(9):776-782. doi: 10.1016/j.braindev.2019.05.007. Epub 2019 Jun 4. Brain Dev. 2019. PMID: 31171384
Phenotypic overlapping of trisomy 12p and Pallister-Killian syndrome.
Inage E, Suzuki M, Minowa K, Akimoto N, Hisata K, Shoji H, Okumura A, Shimojima K, Shimizu T, Yamamoto T. Inage E, et al. Among authors: okumura a. Eur J Med Genet. 2010 May-Jun;53(3):159-61. doi: 10.1016/j.ejmg.2010.02.009. Epub 2010 Feb 26. Eur J Med Genet. 2010. PMID: 20219705
Measurement of Reverse Triiodothyronine Level and the Triiodothyronine to Reverse Triiodothyronine Ratio in Dried Blood Spot Samples at Birth May Facilitate Early Detection of Monocarboxylate Transporter 8 Deficiency.
Iwayama H, Kakita H, Iwasa M, Adachi S, Takano K, Kikuchi M, Fujisawa Y, Osaka H, Yamada Y, Okumura A, Hirani K, Weiss RE, Refetoff S. Iwayama H, et al. Among authors: okumura a. Thyroid. 2021 Sep;31(9):1316-1321. doi: 10.1089/thy.2020.0696. Epub 2021 Jul 2. Thyroid. 2021. PMID: 34049438 Free PMC article.
Current medico-psycho-social conditions of patients with West syndrome in Japan.
Yoshitomi S, Hamano SI, Hayashi M, Sakuma H, Hirose S, Ishii A, Honda R, Ikeda A, Imai K, Jin K, Kada A, Kakita A, Kato M, Kawai K, Kawakami T, Kobayashi K, Matsuishi T, Matsuo T, Nabatame S, Okamoto N, Ito S, Okumura A, Saito A, Shiraishi H, Shirozu H, Saito T, Sugano H, Takahashi Y, Yamamoto H, Fukuyama T, Kuki I, Inoue Y. Yoshitomi S, et al. Among authors: okumura a. Epileptic Disord. 2021 Aug 1;23(4):579-589. doi: 10.1684/epd.2021.1301. Epileptic Disord. 2021. PMID: 34269179
928 results