1. Clinical characterization and identification of duplication breakpoints in a Japanese family with Xq28 duplication syndrome including MECP2. Issue 4 (29th January 2014) Authors: Fukushi, Daisuke; Yamada, Kenichiro; Nomura, Noriko; Naiki, Misako; Kimura, Reiko; Yamada, Yasukazu; Kumagai, Toshiyuki; Yamaguchi, Kumiko; Miyake, Yoshishige; Wakamatsu, Nobuaki Journal: American journal of medical genetics Issue: Volume 164:Issue 4(2014.) Page Start: 924 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Mutations in HADHB, which encodes the β‐subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy. Issue 5 (24th March 2014) Authors: Naiki, Misako; Ochi, Nobuhiko; Kato, Yusuke S.; Purevsuren, Jamiyan; Yamada, Kenichiro; Kimura, Reiko; Fukushi, Daisuke; Hara, Shinya; Yamada, Yasukazu; Kumagai, Toshiyuki; Yamaguchi, Seiji; Wakamatsu, Nobuaki Journal: American journal of medical genetics Issue: Volume 164:Issue 5(2014.) Page Start: 1180 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Novel mutation in HPRT1 causing a splicing error with multiple variations. (2nd January 2017) Authors: Baba, Shimpei; Saito, Takashi; Yamada, Yasukazu; Takeshita, Eri; Nomura, Noriko; Yamada, Kenichiro; Wakamatsu, Nobuaki; Sasaki, Masayuki Journal: Nucleosides, nucleotides & nucleic acids Issue: Volume 36:Number 1(2017) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. The spectrum of ZEB2 mutations causing the Mowat–Wilson syndrome in Japanese populations. Issue 8 (8th April 2014) Authors: Yamada, Yasukazu; Nomura, Noriko; Yamada, Kenichiro; Matsuo, Mari; Suzuki, Yuka; Sameshima, Kiyoko; Kimura, Reiko; Yamamoto, Yuto; Fukushi, Daisuke; Fukuhara, Yayoi; Ishihara, Naoko; Nishi, Eriko; Imataka, George; Suzumura, Hiroshi; Hamano, Shin‐Ichiro; Shimizu, Kenji; Iwakoshi, Mie; Ohama, Kazun... Journal: American journal of medical genetics Issue: Volume 164:Issue 8(2014.) Page Start: 1899 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗