A case of Barber-Say syndrome in a male Japanese newborn

por Suga, Kenichi, Shono, Miki, Goji, Aya, Matsuura, Sato, Inoue, Miki, Kawahito, Masami, Kinoshita, Michiyo, Takeda, Misa, Mori, Kazuhiro
Publicado 2014

A novel missense mutation of COL5A2 in a patient with Ehlers–Danlos syndrome

por Watanabe, Miki, Nakagawa, Ryuji, Naruto, Takuya, Kohmoto, Tomohiro, Suga, Ken-ichi, Goji, Aya, Kagami, Shoji, Masuda, Kiyoshi, Imoto, Issei
Publicado 2016

Assessment of Anterior Cingulate Cortex (ACC) and Left Cerebellar Metabolism in Asperger's Syndrome with Proton Magnetic Resonance Spectroscopy (MRS)

por Goji, Aya, Ito, Hiromichi, Mori, Kenji, Harada, Masafumi, Hisaoka, Sonoka, Toda, Yoshihiro, Mori, Tatsuo, Abe, Yoko, Miyazaki, Masahito, Kagami, Shoji
Publicado 2017

Exome-first approach identified a novel gloss deletion associated with Lowe syndrome

por Watanabe, Miki, Nakagawa, Ryuji, Kohmoto, Tomohiro, Naruto, Takuya, Suga, Ken-ichi, Goji, Aya, Horikawa, Hideaki, Masuda, Kiyoshi, Kagami, Shoji, Imoto, Issei
Publicado 2016

The first Japanese patient with mandibular hypoplasia, deafness, progeroid features and lipodystrophy diagnosed via POLD1 mutation detection

por Okada, Asami, Kohmoto, Tomohiro, Naruto, Takuya, Yokota, Ichiro, Kotani, Yumiko, Shimada, Aki, Miyamoto, Yoko, Takahashi, Rizu, Goji, Aya, Masuda, Kiyoshi, Kagami, Shoji, Imoto, Issei
Publicado 2017

Molecular diagnosis of an infant with TSC2/PKD1 contiguous gene syndrome

por Osumi, Keita, Suga, Kenichi, Ono, Akemi, Goji, Aya, Mori, Tatsuo, Kinoshita, Yukiko, Sugano, Mikio, Toda, Yoshihiro, Urushihara, Maki, Nakagawa, Ryuji, Hayabuchi, Yasunobu, Imoto, Issei, Kagami, Shoji
Publicado 2020