A two-day-old hyperthyroid neonate with thyroid hormone resistance born to a mother with well-controlled Graves’ disease: a case report

Por Yatsuga, Shuichi, Hiromatsu, Yuji, Sasaki, Shigekazu, Nakamura, Hirotoshi, Katayama, Koju, Nishioka, Junko, Koga, Yasutoshi
Publicado em 2012

Developmental delay and failure to thrive in a 7-month-old baby boy with spontaneous transient Graves’ thyrotoxicosis: a case report

Por Yatsuga, Shuichi, Saikusa, Tomoko, Sasaki, Takako, Ushijima, Kikumi, Kitamura, Miyuki, Nishioka, Junko, Koga, Yasutoshi
Publicado no J Med Case Rep (2016)

l-Arginine intervention at hyper-acute phase protects the prolonged MRI abnormality in MELAS

Por Kitamura, Miyuki, Yatsuga, Shuichi, Abe, Toshi, Povalko, Nataliya, Saiki, Reo, Ushijima, Kikumi, Yamashita, Yushiro, Koga, Yasutoshi
Publicado no J Neurol (2016)

The first Japanese case of central precocious puberty with a novel MKRN3 mutation

Por Nishioka, Junko, Shima, Hirohito, Fukami, Maki, Yatsuga, Shuichi, Matsumoto, Takako, Ushijima, Kikumi, Kitamura, Miyuki, Koga, Yasutoshi
Publicado no Hum Genome Var (2017)

Growth differentiation factor 15 as a useful biomarker for mitochondrial disorders

Por Yatsuga, Shuichi, Fujita, Yasunori, Ishii, Akiko, Fukumoto, Yoshihiro, Arahata, Hajime, Kakuma, Tatsuyuki, Kojima, Toshio, Ito, Masafumi, Tanaka, Masashi, Saiki, Reo, Koga, Yasutoshi
Publicado no Ann Neurol (2015)

An unclassified variant of CHD7 activates a cryptic splice site in a patient with CHARGE syndrome

Por Katoh-Fukui, Yuko, Yatsuga, Shuichi, Shima, Hirohito, Hattori, Atsushi, Nakamura, Akie, Okamura, Kohji, Yanagi, Kumiko, Iso, Manami, Kaname, Tadashi, Matsubara, Yoichi, Fukami, Maki
Publicado no Hum Genome Var (2018)