1. "Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu‐Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome" Am J Med Genet. 161:518–526, 2013. Issue 10 (17th September 2013) Authors: Narumi, Yoko; Min, Byung‐Joo; Shimizu, Kenji; Kazukawa, Itsuro; Sameshima, Kiyoko; Nakamura, Koichi; Kosho, Tomoki; Rhee, Yumie; Chung, Yoon‐Sok; Kim, Ok‐Hwa; Fukushima, Yoshimitsu; Park, Woong‐Yang; Nishimura, Gen Journal: American journal of medical genetics Issue: Volume 161:Issue 10(2013:Oct.) Page Start: 2685 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical consequences in truncating mutations in exon 34 of NOTCH2: Report of six patients with Hajdu–Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome12. Issue 3 (7th February 2013) Authors: Narumi, Yoko; Min, Byung‐Joo; Shimizu, Kenji; Kazukawa, Itsuro; Sameshima, Kiyoko; Nakamura, Koichi; Kosho, Tomoki; Rhee, Yumie; Chung, Yoon‐Sok; Kim, Ok‐Hwa; Fukushima, Yoshimitsu; Park, Woong‐Yang; Nishimura, Gen Journal: American journal of medical genetics Issue: Volume 161:Issue 3(2013:Mar.) Page Start: 518 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature. Issue 6 (1st May 2013) Authors: Kosho, Tomoki; Okamoto, Nobuhiko; Ohashi, Hirofumi; Tsurusaki, Yoshinori; Imai, Yoko; Hibi‐Ko, Yumiko; Kawame, Hiroshi; Homma, Tomomi; Tanabe, Saori; Kato, Mitsuhiro; Hiraki, Yoko; Yamagata, Takanori; Yano, Shoji; Sakazume, Satoru; Ishii, Takuma; Nagai, Toshiro; Ohta, Tohru; Niikawa, Norio; Mizun... Journal: American journal of medical genetics Issue: Volume 161:Issue 6(2013:Jun.) Page Start: 1221 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: A clinical report and review of literature. Issue 5 (24th March 2014) Authors: Narumi, Yoko; Nishina, Sachiko; Tokimitsu, Motoharu; Aoki, Yoko; Kosaki, Rika; Wakui, Keiko; Azuma, Noriyuki; Murata, Toshinori; Takada, Fumio; Fukushima, Yoshimitsu; Kosho, Tomoki Journal: American journal of medical genetics Issue: Volume 164:Issue 5(2014.) Page Start: 1272 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Microarray and FISH‐based genotype–phenotype analysis of 22 Japanese patients with Wolf–Hirschhorn syndrome. Issue 3 (19th December 2013) Authors: Shimizu, Kenji; Wakui, Keiko; Kosho, Tomoki; Okamoto, Nobuhiko; Mizuno, Seiji; Itomi, Kazuya; Hattori, Shigeto; Nishio, Kimio; Samura, Osamu; Kobayashi, Yoshiyuki; Kako, Yuko; Arai, Takashi; Oh‐ishi, Tsutomu; Kawame, Hiroshi; Narumi, Yoko; Ohashi, Hirofumi; Fukushima, Yoshimitsu Journal: American journal of medical genetics Issue: Volume 164:Issue 3(2014.) Page Start: 597 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗