An association with hypopituitarism and 9q subtelomere deletion syndrome

por Higuchi, Shinji, Takagi, Masaki, Takeda, Ryojun, Yoshihashi, Hiroshi, Narumi, Satoshi, Hasegawa, Tomonobu
Publicado 2018

Pathogenesis of CDK8-associated disorder: two patients with novel CDK8 variants and in vitro and in vivo functional analyses of the variants

por Uehara, Tomoko, Abe, Kota, Oginuma, Masayuki, Ishitani, Shizuka, Yoshihashi, Hiroshi, Okamoto, Nobuhiko, Takenouchi, Toshiki, Kosaki, Kenjiro, Ishitani, Tohru
Publicado 2020

Recurrent NFIA K125E substitution represents a loss‐of‐function allele: Sensitive in vitro and in vivo assays for nontruncating alleles

por Uehara, Tomoko, Sanuki, Rikako, Ogura, Yurie, Yokoyama, Atsushi, Yoshida, Takeshi, Futagawa, Hiroshi, Yoshihashi, Hiroshi, Yamada, Mamiko, Suzuki, Hisato, Takenouchi, Toshiki, Matsubara, Kohei, Hirata, Hiromi, Kosaki, Kenjiro, Takano‐Shimizu, Toshiyuki
Publicado 2021

Myoclonic Epilepsy with Ragged-red Fibers with Intranuclear Inclusions

por Kawazoe, Tomoya, Tobisawa, Shinsuke, Sugaya, Keizo, Uruha, Akinori, Miyamoto, Kazuhito, Komori, Takashi, Goto, Yu-ichi, Nishino, Ichizo, Yoshihashi, Hiroshi, Mizuguchi, Takeshi, Matsumoto, Naomichi, Egawa, Naohiro, Kawata, Akihiro, Isozaki, Eiji
Publicado 2021

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

Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex

por Nagata, Eiko, Kano, Hiroki, Kato, Fumiko, Yamaguchi, Rie, Nakashima, Shinichi, Takayama, Shinichiro, Kosaki, Rika, Tonoki, Hidefumi, Mizuno, Seiji, Watanabe, Satoshi, Yoshiura, Koh-ichiro, Kosho, Tomoki, Hasegawa, Tomonobu, Kimizuka, Mamori, Suzuki, Atsushi, Shimizu, Kenji, Ohashi, Hirofumi, Haga, Nobuhiko, Numabe, Hironao, Horii, Emiko, Nagai, Toshiro, Yoshihashi, Hiroshi, Nishimura, Gen, Toda, Tatsushi, Takada, Shuji, Yokoyama, Shigetoshi, Asahara, Hiroshi, Sano, Shinichiro, Fukami, Maki, Ikegawa, Shiro, Ogata, Tsutomu
Publicado 2014

Correction to: Detailed clinical features and genotype–phenotype correlation in an OTOF-related hearing loss cohort in Japan

por Iwasa, Yoh-ichiro, Nishio, Shin-ya, Yoshimura, Hidekane, Sugaya, Akiko, Kataoka, Yuko, Maeda, Yukihide, Kanda, Yukihiko, Nagai, Kyoko, Naito, Yasushi, Yamazaki, Hiroshi, Ikezono, Tetsuo, Matsuda, Han, Nakai, Masako, Tona, Risa, Sakurai, Yuika, Motegi, Remi, Takeda, Hidehiko, Kobayashi, Marina, Kihara, Chiharu, Ishino, Takashi, Morita, Shin-ya, Iwasaki, Satoshi, Takahashi, Masahiro, Furutate, Sakiko, Oka, Shin-ichiro, Kubota, Toshinori, Arai, Yasuhiro, Kobayashi, Yumiko, Kikuchi, Daisuke, Shintani, Tomoko, Ogasawara, Noriko, Honkura, Yohei, Izumi, Shuji, Hyogo, Misako, Ninoyu, Yuzuru, Suematsu, Mayumi, Nakayama, Jun, Tsuchihashi, Nana, Okami, Mayuri, Sakata, Hideaki, Yoshihashi, Hiroshi, Kobayashi, Taisuke, Kumakawa, Kozo, Yoshida, Tadao, Esaki, Tomoko, Usami, Shin-ichi
Publicado 2021

Detailed clinical features and genotype–phenotype correlation in an OTOF-related hearing loss cohort in Japan

por Iwasa, Yoh-ichiro, Nishio, Shin-ya, Yoshimura, Hidekane, Sugaya, Akiko, Kataoka, Yuko, Maeda, Yukihide, Kanda, Yukihiko, Nagai, Kyoko, Naito, Yasushi, Yamazaki, Hiroshi, Ikezono, Tetsuo, Matsuda, Han, Nakai, Masako, Tona, Risa, Sakurai, Yuika, Motegi, Remi, Takeda, Hidehiko, Kobayashi, Marina, Kihara, Chiharu, Ishino, Takashi, Morita, Shin-ya, Iwasaki, Satoshi, Takahashi, Masahiro, Furutate, Sakiko, Oka, Shin-ichiro, Kubota, Toshinori, Arai, Yasuhiro, Kobayashi, Yumiko, Kikuchi, Daisuke, Shintani, Tomoko, Ogasawara, Noriko, Honkura, Yohei, Izumi, Shuji, Hyogo, Misako, Ninoyu, Yuzuru, Suematsu, Mayumi, Nakayama, Jun, Tsuchihashi, Nana, Okami, Mayuri, Sakata, Hideaki, Yoshihashi, Hiroshi, Kobayashi, Taisuke, Kumakawa, Kozo, Yoshida, Tadao, Esaki, Tomoko, Usami, Shin-ichi
Publicado 2021