A novel frameshift mutation of CHD7 in a Japanese patient with CHARGE syndrome

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

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

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