1. Maternal mosaicism of an ANKH mutation in a family with craniometaphyseal dysplasia. Issue 2 (16th April 2013) Authors: Kato, Tamaki; Matsumoto, Hiroshi; Chida, Ayako; Wakamatsu, Hajime; Nonoyama, Shigeaki Journal: Pediatrics international Issue: Volume 55:Issue 2(2013) Page Start: 254 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Mutations of NOTCH3 in childhood pulmonary arterial hypertension. Issue 3 (1st April 2014) Authors: Chida, Ayako; Shintani, Masaki; Matsushita, Yoshihisa; Sato, Hiroki; Eitoku, Takahiro; Nakayama, Tomotaka; Furutani, Yoshiyuki; Hayama, Emiko; Kawamura, Yoichi; Inai, Kei; Ohtsuki, Shinichi; Saji, Tsutomu; Nonoyama, Shigeaki; Nakanishi, Toshio Journal: Molecular genetics & genomic medicine Issue: Volume 2:Issue 3(2014:May) Page Start: 229 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗