Comprehensive Genetic Screening of KCNQ4 in a Large Autosomal Dominant Nonsyndromic Hearing Loss Cohort: Genotype-Phenotype Correlations and a Founder Mutation

por Naito, Takehiko, Nishio, Shin-ya, Iwasa, Yoh-ichiro, Yano, Takuya, Kumakawa, Kozo, Abe, Satoko, Ishikawa, Kotaro, Kojima, Hiromi, Namba, Atsushi, Oshikawa, Chie, Usami, Shin-ichi
Publicado 2013

Massively Parallel DNA Sequencing Facilitates Diagnosis of Patients with Usher Syndrome Type 1

por Yoshimura, Hidekane, Iwasaki, Satoshi, Nishio, Shin-ya, Kumakawa, Kozo, Tono, Tetsuya, Kobayashi, Yumiko, Sato, Hiroaki, Nagai, Kyoko, Ishikawa, Kotaro, Ikezono, Tetsuo, Naito, Yasushi, Fukushima, Kunihiro, Oshikawa, Chie, Kimitsuki, Takashi, Nakanishi, Hiroshi, Usami, Shin-ichi
Publicado 2014

The Prevalence and Clinical Characteristics of TECTA-Associated Autosomal Dominant Hearing Loss

por Yasukawa, Rika, Moteki, Hideaki, Nishio, Shin-ya, Ishikawa, Kotaro, Abe, Satoko, Honkura, Yohei, Hyogo, Misako, Mihashi, Ryota, Ikezono, Tetsuo, Shintani, Tomoko, Ogasawara, Noriko, Shirai, Kyoko, Yoshihashi, Hiroshi, Ishino, Takashi, Otsuki, Koshi, Ito, Tsukasa, Sugahara, Kazuma, Usami, Shin-ichi
Publicado 2019

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

por Kobayashi, Masafumi, Miyagawa, Maiko, Nishio, Shin-ya, Moteki, Hideaki, Fujikawa, Taro, Ohyama, Kenji, Sakaguchi, Hirofumi, Miyanohara, Ikuyo, Sugaya, Akiko, Naito, Yasushi, Morita, Shin-ya, Kanda, Yukihiko, Takahashi, Masahiro, Ishikawa, Kotaro, Nagano, Yuki, Tono, Tetsuya, Oshikawa, Chie, Kihara, Chiharu, Takahashi, Haruo, Noguchi, Yoshihiro, Usami, Shin-ichi
Publicado 2018

Comprehensive analysis of syndromic hearing loss patients in Japan

por Ideura, Michie, Nishio, Shin-ya, Moteki, Hideaki, Takumi, Yutaka, Miyagawa, Maiko, Sato, Teruyuki, Kobayashi, Yumiko, Ohyama, Kenji, Oda, Kiyoshi, Matsui, Takamichi, Ito, Tsukasa, Suzumura, Hiroshi, Nagai, Kyoko, Izumi, Shuji, Nishiyama, Nobuhiro, Komori, Manabu, Kumakawa, Kozo, Takeda, Hidehiko, Kishimoto, Yoko, Iwasaki, Satoshi, Furutate, Sakiko, Ishikawa, Kotaro, Fujioka, Masato, Nakanishi, Hiroshi, Nakayama, Jun, Horie, Rie, Ohta, Yumi, Naito, Yasushi, Kakudo, Mariko, Sakaguchi, Hirofumi, Kataoka, Yuko, Sugahara, Kazuma, Hato, Naohito, Nakagawa, Takashi, Tsuchihashi, Nana, Kanda, Yukihiko, Kihara, Chiharu, Tono, Tetsuya, Miyanohara, Ikuyo, Ganaha, Akira, Usami, Shin-ichi
Publicado 2019