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Pediatrics International : Official Journal of the Japan Pediatric Society|October 29, 2015
Effects of tolvaptan on congestive heart failure complicated with chylothorax in a neonateNikiko Sato, Tokio Sugiura, Rika Nagasaki, et al.
American Journal of Medical Genetics. Part A|September 13, 2011
West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14Jun Tohyama, Toshiyuki Yamamoto, Kana Hosoki, et al.
Brain & Development|February 7, 2013
Magnetoencephalography localizing spike sources of atypical benign partial epilepsyHideaki Shiraishi, Kazuhiro Haginoya, Eiji Nakagawa, et al.
American Journal of Medical Genetics. Part A|April 11, 2017
Novel MCA/ID syndrome with ASH1L mutationNobuhiko Okamoto, Fuyuki Miya, Tatsuhiko Tsunoda, et al.
Journal of Dermatological Science|May 3, 2003
A novel P gene missense mutation in a Japanese patient with oculocutaneous albinism type II (OCA2)Atsushi Kato, Kazuyoshi Fukai, Naoki Oiso, et al.
Annals of Neurology|July 12, 2002
Germline mosaicism of a novel mutation in lysosome-associated membrane protein-2 deficiency (Danon disease)Maki Takahashi, Ayaka Yamamoto, Kyoko Takano, et al.
Journal of Human Genetics|May 17, 2014
Homoplasmy of a mitochondrial 3697G>A mutation causes Leigh syndromeYutaka Negishi, Ayako Hattori, Eri Takeshita, et al.
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