Random X chromosome inactivation in patients with Klinefelter syndrome

por Kinjo, Kenichi, Yoshida, Tomoko, Kobori, Yoshitomo, Okada, Hiroshi, Suzuki, Erina, Ogata, Tsutomu, Miyado, Mami, Fukami, Maki
Publicado 2020

Nonsense-associated altered splicing of MAP3K1 in two siblings with 46,XY disorders of sex development

por Igarashi, Maki, Masunaga, Yohei, Hasegawa, Yuichi, Kinjo, Kenichi, Miyado, Mami, Saitsu, Hirotomo, Kato-Fukui, Yuko, Horikawa, Reiko, Okubo, Yomiko, Ogata, Tsutomu, Fukami, Maki
Publicado 2020

Rare variant of the epigenetic regulator SMCHD1 in a patient with pituitary hormone deficiency

por Kinjo, Kenichi, Nagasaki, Keisuke, Muroya, Koji, Suzuki, Erina, Ishiwata, Keisuke, Nakabayashi, Kazuhiko, Hattori, Atsushi, Nagao, Koji, Nozawa, Ryu-Suke, Obuse, Chikashi, Miyado, Kenji, Ogata, Tsutomu, Fukami, Maki, Miyado, Mami
Publicado 2020