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Page 1
Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan.
Hum Genet. 2022 Apr;141(3-4):865-875. doi: 10.1007/s00439-021-02351-7. Epub 2021 Sep 18.
Hum Genet. 2022.
PMID: 34536124
Free PMC article.
Correction to: Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan.
Iwasa YI, Nishio SY, Yoshimura H, Sugaya A, Kataoka Y, Maeda Y, Kanda Y, Nagai K, Naito Y, Yamazaki H, Ikezono T, Matsuda H, Nakai M, Tona R, Sakurai Y, Motegi R, Takeda H, Kobayashi M, Kihara C, Ishino T, Morita SY, Iwasaki S, Takahashi M, Furutate S, Oka SI, Kubota T, Arai Y, Kobayashi Y, Kikuchi D, Shintani T, Ogasawara N, Honkura Y, Izumi S, Hyogo M, Ninoyu Y, Suematsu M, Nakayama J, Tsuchihashi N, Okami M, Sakata H, Yoshihashi H, Kobayashi T, Kumakawa K, Yoshida T, Esaki T, Usami SI.
Iwasa YI, et al. Among authors: okami m.
Hum Genet. 2022 Apr;141(3-4):993-995. doi: 10.1007/s00439-021-02392-y.
Hum Genet. 2022.
PMID: 34727261
Free PMC article.
No abstract available.
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Jervell and Lange-Nielsen syndrome with novel KCNQ1 and additional gene mutations.
Matsuda S, Ohnuki Y, Okami M, Ochiai E, Yamada S, Takahashi K, Osawa M, Okami K, Iida M, Mochizuki H.
Matsuda S, et al. Among authors: okami m.
Hum Genome Var. 2020 Oct 15;7:34. doi: 10.1038/s41439-020-00121-x. eCollection 2020.
Hum Genome Var. 2020.
PMID: 33082985
Free PMC article.
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Mutational Spectrum and Clinical Features of Patients with LOXHD1 Variants Identified in an 8074 Hearing Loss Patient Cohort.
Maekawa K, Nishio SY, Abe S, Goto SI, Honkura Y, Iwasaki S, Kanda Y, Kobayashi Y, Oka SI, Okami M, Oshikawa C, Sakuma N, Sano H, Shirakura M, Uehara N, Usami SI.
Maekawa K, et al. Among authors: okami m.
Genes (Basel). 2019 Sep 23;10(10):735. doi: 10.3390/genes10100735.
Genes (Basel). 2019.
PMID: 31547530
Free PMC article.
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The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B.
Watanabe K, Nishio SY, Usami SI; Deafness Gene Study Consortium.
Watanabe K, et al.
Sci Rep. 2024 Apr 9;14(1):8326. doi: 10.1038/s41598-024-57415-1.
Sci Rep. 2024.
PMID: 38594301
Free PMC article.
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