A novel PTCH1 mutation in a patient with Gorlin syndrome

por Okamoto, Nana, Naruto, Takuya, Kohmoto, Tomohiro, Komori, Takahide, Imoto, Issei
Publicado 2014

Novel CLCN7 compound heterozygous mutations in intermediate autosomal recessive osteopetrosis

por Okamoto, Nana, Kohmoto, Tomohiro, Naruto, Takuya, Masuda, Kiyoshi, Komori, Takahide, Imoto, Issei
Publicado 2017

A FRMD7 variant in a Japanese family causes congenital nystagmus

por Kohmoto, Tomohiro, Okamoto, Nana, Satomura, Shigeko, Naruto, Takuya, Komori, Takahide, Hashimoto, Toshiaki, Imoto, Issei
Publicado 2015

A novel COL11A1 mutation affecting splicing in a patient with Stickler syndrome

por Kohmoto, Tomohiro, Naruto, Takuya, Kobayashi, Haruka, Watanabe, Miki, Okamoto, Nana, Masuda, Kiyoshi, Imoto, Issei, Okamoto, Nobuhiko
Publicado 2015

Fingolimod promotes blood–nerve barrier properties in vitro

por Nishihara, Hideaki, Maeda, Toshihiko, Sano, Yasuteru, Ueno, Maho, Okamoto, Nana, Takeshita, Yukio, Shimizu, Fumitaka, Koga, Michiaki, Kanda, Takashi
Publicado 2018

A case with concurrent duplication, triplication, and uniparental isodisomy at 1q42.12-qter supporting microhomology-mediated break-induced replication model for replicative rearra...

por Kohmoto, Tomohiro, Okamoto, Nana, Naruto, Takuya, Murata, Chie, Ouchi, Yuya, Fujita, Naoko, Inagaki, Hidehito, Satomura, Shigeko, Okamoto, Nobuhiko, Saito, Masako, Masuda, Kiyoshi, Kurahashi, Hiroki, Imoto, Issei
Publicado 2017