Goiter in a 6-year-old patient with novel thyroglobulin gene variant (Gly145Glu) causing intracellular thyroglobulin transport disorder: Correlation between goiter size and the fre...

por Matsuyama, Misayo, Sawada, Hirotake, Inoue, Shinobu, Hishinuma, Akira, Sekiya, Ryo, Sato, Yuichiro, Moritake, Hiroshi
Publicado 2022

Novel splice site variant of TMEM38B in osteogenesis imperfecta type XIV

por Kodama, Yoshihiko, Meiri, Satoru, Asada, Tomoko, Matsuyama, Misayo, Makino, Shinya, Iwai, Minayo, Yamaguchi, Masatoshi, Moritake, Hiroshi
Publicado 2023

Familial episodic limb pain in kindreds with novel Nav1.9 mutations

por Kabata, Risako, Okuda, Hiroko, Noguchi, Atsuko, Kondo, Daiki, Fujiwara, Michimasa, Hata, Kenichiro, Kato, Yoshifumi, Ishikawa, Ken, Tanaka, Manabu, Sekine, Yuji, Hishikawa, Nozomi, Mizukami, Tomoyuki, Ito, Junichi, Akasaka, Manami, Sakurai, Ken, Yoshida, Takeshi, Minoura, Hironori, Hayashi, Takashi, Inoshita, Kohei, Matsuyama, Misayo, Kinjo, Noriko, Cao, Yang, Inoue, Sumiko, Kobayashi, Hatasu, Harada, Kouji H., Youssefian, Shohab, Takahashi, Tsutomu, Koizumi, Akio
Publicado 2018