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Page 1
Comprehensive analysis of syndromic hearing loss patients in Japan.
Ideura M, Nishio SY, Moteki H, Takumi Y, Miyagawa M, Sato T, Kobayashi Y, Ohyama K, Oda K, Matsui T, Ito T, Suzumura H, Nagai K, Izumi S, Nishiyama N, Komori M, Kumakawa K, Takeda H, Kishimoto Y, Iwasaki S, Furutate S, Ishikawa K, Fujioka M, Nakanishi H, Nakayama J, Horie R, Ohta Y, Naito Y, Kakudo M, Sakaguchi H, Kataoka Y, Sugahara K, Hato N, Nakagawa T, Tsuchihashi N, Kanda Y, Kihara C, Tono T, Miyanohara I, Ganaha A, Usami SI. Ideura M, et al. Among authors: kumakawa k. Sci Rep. 2019 Aug 19;9(1):11976. doi: 10.1038/s41598-019-47141-4. Sci Rep. 2019. PMID: 31427586 Free PMC article.
POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss.
Kitano T, Miyagawa M, Nishio SY, Moteki H, Oda K, Ohyama K, Miyazaki H, Hidaka H, Nakamura KI, Murata T, Matsuoka R, Ohta Y, Nishiyama N, Kumakawa K, Furutate S, Iwasaki S, Yamada T, Ohta Y, Uehara N, Noguchi Y, Usami SI. Kitano T, et al. Among authors: kumakawa k. PLoS One. 2017 May 17;12(5):e0177636. doi: 10.1371/journal.pone.0177636. eCollection 2017. PLoS One. 2017. PMID: 28545070 Free PMC article.
Frequency and clinical features of hearing loss caused by STRC deletions.
Yokota Y, Moteki H, Nishio SY, Yamaguchi T, Wakui K, Kobayashi Y, Ohyama K, Miyazaki H, Matsuoka R, Abe S, Kumakawa K, Takahashi M, Sakaguchi H, Uehara N, Ishino T, Kosho T, Fukushima Y, Usami SI. Yokota Y, et al. Among authors: kumakawa k. Sci Rep. 2019 Mar 13;9(1):4408. doi: 10.1038/s41598-019-40586-7. Sci Rep. 2019. PMID: 30867468 Free PMC article.
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: kumakawa k. 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.
73 results