Shinshu University · Department of Medicine / Faculty of Medicine · 准教授

Research keywords遺伝性難聴・GJB2変異・KCNQ4変異・TECTA変異・Usher症候群・人工内耳遺伝疫学・TMPRSS3変異・HOXA2バリアント

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• Etiology of hearing loss affects auditory skill development and vocabulary development in pediatric cochlear implantation cases.
• Correction to: Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan.
• Frequency and natural course of congenital cytomegalovirus-associated hearing loss in children.
• The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B.

• ANSDに対する遺伝子解析とその臨床像に関する検討
• 老人性難聴発症に関与するSNPsの探索に関する研究
• 疾患iPS技術を用いた有毛細胞シリア障害(cilliapathy)の病態解析研究
• ヒト内耳の空間トランスクリプトーム解析

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