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The expanding phenotype of hypokalemic periodic paralysis in a Japanese family with p.Val876Glu mutation in CACNA1S.
Kurokawa M, Torio M, Ohkubo K, Tocan V, Ohyama N, Toda N, Ishii K, Nishiyama K, Mushimoto Y, Sakamoto R, Nakaza M, Horie R, Kubota T, Takahashi MP, Sakai Y, Nomura M, Ohga S. Kurokawa M, et al. Among authors: ishii k. Mol Genet Genomic Med. 2020 Apr;8(4):e1175. doi: 10.1002/mgg3.1175. Epub 2020 Feb 27. Mol Genet Genomic Med. 2020. PMID: 32104981 Free PMC article.
A Child with Prostaglandin I2-associated Thyrotoxicosis: Case Report.
Sonoda Y, Yamamura K, Ishii K, Ohkubo K, Ihara K, Sakai Y, Ohga S. Sonoda Y, et al. Among authors: ishii k. J Clin Res Pediatr Endocrinol. 2019 May 28;11(2):207-210. doi: 10.4274/jcrpe.galenos.2018.2018.0169. Epub 2018 Oct 16. J Clin Res Pediatr Endocrinol. 2019. PMID: 30325337 Free PMC article.
A case report with functional characterization of a HNF1B mutation (p.Leu168Pro) causing MODY5.
Yoshida K, Mushimoto Y, Tanase-Nakao K, Akiba K, Ishii K, Urakami T, Sugihara S, Kikuchi T, Fukami M, Narumi S; Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes (JSGIT). Yoshida K, et al. Among authors: ishii k. Clin Pediatr Endocrinol. 2021;30(4):179-185. doi: 10.1297/cpe.30.179. Epub 2021 Oct 1. Clin Pediatr Endocrinol. 2021. PMID: 34629740 Free PMC article.
5,299 results