Development of individuals with thanatophoric dysplasia surviving beyond infancy

por Ushioda, Mariko, Sawai, Hideaki, Numabe, Hironao, Nishimura, Gen, Shibahara, Hiroaki
Publicado 2022

A family case of X-linked Alport syndrome patients with a novel variant in COL4A5

por Kashiwagi, Yasuyo, Suzuki, Shinji, Agata, Kazushi, Morishima, Yasuyuki, Inagaki, Natsuko, Numabe, Hironao, Kawashima, Hisashi
Publicado 2018

National survey of prevalence and prognosis of thanatophoric dysplasia in Japan

por Sawai, Hideaki, Oka, Kaname, Ushioda, Mariko, Nishimura, Gen, Omori, Takashi, Numabe, Hironao, Kosugi, Shinji
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