Neonatal screening and a new cause of congenital central hypothyroidism

by Toshihiro Tajima, Akie Nakamura, Shuntaro Morikawa, Katsura Ishizu
Published 2014-09-01

Nephrocalcinosis and Placental Findings in Neonatal Bartter Syndrome

by Hidehiko Maruyama, Yoko Shinno, Kaori Fujiwara, Akie Nakamura, Toshihiro Tajima, Makoto Nakamura, Misao Kageyama
Published 2013-05-01

Four Japanese Patients with Congenital Nephrogenic Diabetes Insipidus due to the AVPR2 Mutations

by Noriko Namatame-Ohta, Shuntaro Morikawa, Akie Nakamura, Kumihiro Matsuo, Masahide Nakajima, Kazuhiro Tomizawa, Yusuke Tanahashi, Toshihiro Tajima
Published 2018-01-01

Three Japanese patients with congenital pituitary hormone deficiency and ophthalmological anomalies

by Kuniko Takanashi, Yashuto Suzuki, Ayumu Noro, MInako Sugiyama, Masanori Nakanishi, Tetsuro Nagashima, Akie Nakamura, Ishizu Katsura, Toshihiro Tajima
Published 2011-07-01

Temple syndrome in a patient with variably methylated CpGs at the primary MEG3/DLK1:IG-DMR and severely hypomethylated CpGs at the secondary MEG3:TSS-DMR

by Masayo Kagami, Atsuhiro Yanagisawa, Miyuki Ota, Kentaro Matsuoka, Akie Nakamura, Keiko Matsubara, Kazuhiko Nakabayashi, Shuji Takada, Maki Fukami, Tsutomu Ogata
Published 2019-03-01

Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects

by Takanobu Inoue, Akie Nakamura, Tomoko Fuke, Kazuki Yamazawa, Shinichiro Sano, Keiko Matsubara, Seiji Mizuno, Yoshika Matsukura, Chie Harashima, Tatsuji Hasegawa, Hisakazu Nakajima, Kumi Tsumura, Zenro Kizaki, Akira Oka, Tsutomu Ogata, Maki Fukami, Masayo Kagami
Published 2017-05-01