Hasil Pencarian - Shin‐Ya Nishio

Perbaiki Hasil
  1. 1
    Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients

    Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients oleh Shin-ya Nishio, Shin-ichi Usami

    Diterbitkan 2022-01-01
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  2. 2
    Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study.

    Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study. oleh Maiko Miyagawa, Shin-ya Nishio, Shin-ichi Usami

    Diterbitkan 2012-01-01
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  3. 3
    Milestones toward cochlear gene therapy for patients with hereditary hearing loss

    Milestones toward cochlear gene therapy for patients with hereditary hearing loss oleh Hidekane Yoshimura, Shin‐Ya Nishio, Shin‐Ichi Usami

    Diterbitkan 2021-10-01
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  4. 4
    Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients.

    Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients. oleh Yoh-Ichiro Iwasa, Shin-Ya Nishio, Shin-Ichi Usami

    Diterbitkan 2016-01-01
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  5. 5
    Comparison of vestibular function in hereditary hearing loss patients with GJB2, CDH23, and SLC26A4 variants

    Comparison of vestibular function in hereditary hearing loss patients with GJB2, CDH23, and SLC26A4 variants oleh Keita Tsukada, Shin-ya Nishio, Yutaka Takumi, Shin-ichi Usami

    Diterbitkan 2024-05-01
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  6. 6
    Detailed Clinical Features of Deafness Caused by a Claudin-14 Variant

    Detailed Clinical Features of Deafness Caused by a Claudin-14 Variant oleh Tomohiro Kitano, Shin-ichiro Kitajiri, Shin-ya Nishio, Shin-ichi Usami

    Diterbitkan 2019-09-01
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  7. 7
    The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B

    The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B oleh Kizuki Watanabe, Shin-ya Nishio, Shin-ichi Usami, the Deafness Gene Study Consortium

    Diterbitkan 2024-04-01
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  8. 8
    Massively parallel DNA sequencing successfully identifies new causative mutations in deafness genes in patients with cochlear implantation and EAS.

    Massively parallel DNA sequencing successfully identifies new causative mutations in deafness genes in patients with cochlear implantation and EAS. oleh Maiko Miyagawa, Shin-ya Nishio, Takuo Ikeda, Kunihiro Fukushima, Shin-ichi Usami

    Diterbitkan 2013-01-01
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  9. 9
    Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients.

    Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients. oleh Maiko Miyagawa, Takehiko Naito, Shin-ya Nishio, Naoyuki Kamatani, Shin-ichi Usami

    Diterbitkan 2013-01-01
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  10. 10
    Social Health Insurance-Based Simultaneous Screening for 154 Mutations in 19 Deafness Genes Efficiently Identified Causative Mutations in Japanese Hearing Loss Patients.

    Social Health Insurance-Based Simultaneous Screening for 154 Mutations in 19 Deafness Genes Efficiently Identified Causative Mutations in Japanese Hearing Loss Patients. oleh Kentaro Mori, Hideaki Moteki, Maiko Miyagawa, Shin-Ya Nishio, Shin-Ichi Usami

    Diterbitkan 2016-01-01
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  11. 11
    Deafness gene expression patterns in the mouse cochlea found by microarray analysis.

    Deafness gene expression patterns in the mouse cochlea found by microarray analysis. oleh Hidekane Yoshimura, Yutaka Takumi, Shin-ya Nishio, Nobuyoshi Suzuki, Yoh-ichiro Iwasa, Shin-ichi Usami

    Diterbitkan 2014-01-01
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  12. 12
    Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: a multicenter study.

    Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: a multicenter study. oleh Shin-ichi Usami, Shin-ya Nishio, Makoto Nagano, Satoko Abe, Toshikazu Yamaguchi, Deafness Gene Study Consortium

    Diterbitkan 2012-01-01
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  13. 13
    Gene expression pattern after insertion of dexamethasone-eluting electrode into the guinea pig cochlea.

    Gene expression pattern after insertion of dexamethasone-eluting electrode into the guinea pig cochlea. oleh Yutaka Takumi, Shin-ya Nishio, Kenneth Mugridge, Tomohiro Oguchi, Shigenari Hashimoto, Nobuyoshi Suzuki, Satoshi Iwasaki, Claude Jolly, Shin-ichi Usami

    Diterbitkan 2014-01-01
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  14. 14
    Validation of RNA Extraction Methods and Suitable Reference Genes for Gene Expression Studies in Developing Fetal Human Inner Ear Tissue

    Validation of RNA Extraction Methods and Suitable Reference Genes for Gene Expression Studies in Developing Fetal Human Inner Ear Tissue oleh Claudia Steinacher, Dietmar Rieder, Jasmin E. Turner, Nita Solanky, Shin-ya Nishio, Shin-ichi Usami, Barbara Hausott, Anneliese Schrott-Fischer, Jozsef Dudas

    Diterbitkan 2024-03-01
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  15. 15
    Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation.

    Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation. oleh Takehiko Naito, Shin-ya Nishio, Yoh-ichiro Iwasa, Takuya Yano, Kozo Kumakawa, Satoko Abe, Kotaro Ishikawa, Hiromi Kojima, Atsushi Namba, Chie Oshikawa, Shin-ichi Usami

    Diterbitkan 2013-01-01
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  16. 16
    Generation of an induced pluripotent stem cell line from a late-onset, progressive high frequency hearing loss patient due to mutation in CDH23

    Generation of an induced pluripotent stem cell line from a late-onset, progressive high frequency hearing loss patient due to mutation in CDH23 oleh Daisuke Arai, Mikako Takahashi-Shibata, Takao Ukaji, Harumi Tsutsumi, Shori Tajima, Shin-ya Nishio, Kei-ichi Ishikawa, Wado Akamatsu, Fumihiko Matsumoto, Katsuhisa Ikeda, Shin-ichi Usami, Kazusaku Kamiya

    Diterbitkan 2024-09-01
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  17. 17
    Constitutive activation of DIA1 (DIAPH1) via C‐terminal truncation causes human sensorineural hearing loss

    Constitutive activation of DIA1 (DIAPH1) via C‐terminal truncation causes human sensorineural hearing loss oleh Takehiko Ueyama, Yuzuru Ninoyu, Shin‐ya Nishio, Takushi Miyoshi, Hiroko Torii, Koji Nishimura, Kazuma Sugahara, Hideaki Sakata, Dean Thumkeo, Hirofumi Sakaguchi, Naoki Watanabe, Shin‐ichi Usami, Naoaki Saito, Shin‐ichiro Kitajiri

    Diterbitkan 2016-10-01
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  18. 18
    Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1.

    Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1. oleh Hidekane Yoshimura, Satoshi Iwasaki, Shin-Ya Nishio, Kozo Kumakawa, Tetsuya Tono, Yumiko Kobayashi, Hiroaki Sato, Kyoko Nagai, Kotaro Ishikawa, Tetsuo Ikezono, Yasushi Naito, Kunihiro Fukushima, Chie Oshikawa, Takashi Kimitsuki, Hiroshi Nakanishi, Shin-Ichi Usami

    Diterbitkan 2014-01-01
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  19. 19
    POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss.

    POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing l... oleh Tomohiro Kitano, Maiko Miyagawa, Shin-Ya Nishio, Hideaki Moteki, Kiyoshi Oda, Kenji Ohyama, Hiromitsu Miyazaki, Hiroshi Hidaka, Ken-Ichi Nakamura, Takaaki Murata, Rina Matsuoka, Yoko Ohta, Nobuhiro Nishiyama, Kozo Kumakawa, Sakiko Furutate, Satoshi Iwasaki, Takechiyo Yamada, Yumi Ohta, Natsumi Uehara, Yoshihiro Noguchi, Shin-Ichi Usami

    Diterbitkan 2017-01-01
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  20. 20
    WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis.

    WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis. oleh Masafumi Kobayashi, Maiko Miyagawa, Shin-Ya Nishio, Hideaki Moteki, Taro Fujikawa, Kenji Ohyama, Hirofumi Sakaguchi, Ikuyo Miyanohara, Akiko Sugaya, Yasushi Naito, Shin-Ya Morita, Yukihiko Kanda, Masahiro Takahashi, Kotaro Ishikawa, Yuki Nagano, Tetsuya Tono, Chie Oshikawa, Chiharu Kihara, Haruo Takahashi, Yoshihiro Noguchi, Shin-Ichi Usami

    Diterbitkan 2018-01-01
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