Constitutive activation of DIA1 (DIAPH1) via C‐terminal truncation causes human sensorineural hearing loss

Por Ueyama, Takehiko, Ninoyu, Yuzuru, Nishio, Shin‐ya, Miyoshi, Takushi, Torii, Hiroko, Nishimura, Koji, Sugahara, Kazuma, Sakata, Hideaki, Thumkeo, Dean, Sakaguchi, Hirofumi, Watanabe, Naoki, Usami, Shin‐ichi, Saito, Naoaki, Kitajiri, Shin‐ichiro
Publicado no EMBO Mol Med (2016)

Screening for seemingly healthy newborns with congenital cytomegalovirus infection by quantitative real-time polymerase chain reaction using newborn urine: an observational study

Por Yamaguchi, Akira, Oh-ishi, Tsutomu, Arai, Takashi, Sakata, Hideaki, Adachi, Nodoka, Asanuma, Satoshi, Oguma, Eiji, Kimoto, Hirofumi, Matsumoto, Jiro, Fujita, Hidetoshi, Uesato, Tadashi, Fujita, Jutaro, Shirato, Ken, Ohno, Hideki, Kizaki, Takako
Publicado no BMJ Open (2017)