المؤلفون: Watanabe, Kizuki, Nishio, Shin-ya, Usami, Shin-ichi, Kumai, Takumi, Katada, Akihiro, Ogasawara, Noriko, Shintani, Tomoko, Morita, Shin-ya, Takeichi, Norito, Goto, Shin-ichi, Nanba, Atsushi, Sasaki, Akira, Kobayashi, Yumiko, Honkura, Yohei, Adachi, Mika, Takai, Shunsuke, Oda, Kiyoshi, Sato, Teruyuki, Yamada, Takechiyo, Shiina, Kazuhiro

المصدر: Scientific Reports; 4/9/2024, Vol. 14 Issue 1, p1-19, 19p

مصطلحات موضوعية: HEARING disorders, USHER'S syndrome, MISSENSE mutation, NUCLEOTIDE sequencing, SEQUENCE analysis

المؤلفون: Iwasaki S; Department of Hearing Implant Sciences, Shinshu University, Matsumoto., Yoshimura H, Takeichi N, Satou H, Ishikawa K, Kaga K, Kumakawa K, Nagai K, Furuya N, Ikezono T, Nakanishi H, Naitou Y, Fukushima K, Tono T, Kimitsuki T, Nishio S, Takumi Y, Usami S

المصدر: Nihon Jibiinkoka Gakkai kaiho [Nihon Jibiinkoka Gakkai Kaiho] 2012 Oct; Vol. 115 (10), pp. 894-901.

نوع المنشور: English Abstract; Journal Article

بيانات الدورية: Publisher: Oto-Rhino-Laryngological Society of Japan Country of Publication: Japan NLM ID: 7505728 Publication Model: Print Cited Medium: Print ISSN: 0030-6622 (Print) Linking ISSN: 00306622 NLM ISO Abbreviation: Nihon Jibiinkoka Gakkai Kaiho Subsets: MEDLINE

مواضيع طبية MeSH: Usher Syndromes/*diagnosis, Adult ; Aged ; Aged, 80 and over ; Diagnosis, Differential ; Female ; Genetic Testing/methods ; Humans ; Male ; Middle Aged ; Mutation/genetics ; Retinitis Pigmentosa/diagnosis ; Retinitis Pigmentosa/genetics ; Retrospective Studies ; Usher Syndromes/genetics