1. A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines. (25th November 2014) Authors: Nishi, Eriko; Mizuno, Seiji; Nanjo, Yuka; Niihori, Tetsuya; Fukushima, Yoshimitsu; Matsubara, Yoichi; Aoki, Yoko; Kosho, Tomoki Journal: American journal of medical genetics Issue: Volume 167:Number 2(2015:Feb.) Page Start: 407 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Blended phenotype of combination of HERC2 and AP3B2 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15. Issue 10 (27th May 2021) Authors: Ueda, Kimiko; Ogawa, Satoru; Matsuda, Keiko; Hasegawa, Yuiko; Nishi, Eriko; Yanagi, Kumiko; Kaname, Tadashi; Yamamoto, Toshiyuki; Okamoto, Nobuhiko Journal: American journal of medical genetics Issue: Volume 185:Issue 10(2021) Page Start: 3092 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. CDKN1C hyperexpression in two patients with severe growth failure and microdeletions affecting the paternally inherited KCNQ1OT1:TSS-DMR. Issue 12 (29th July 2022) Authors: Hara-Isono, Kaori; Yamazawa, Kazuki; Tanaka, Satsuki; Nishi, Eriko; Fukami, Maki; Kagami, Masayo Journal: Journal of medical genetics Issue: Volume 59:Issue 12(2022) Page Start: 1241 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical and molecular spectrum of CHOPS syndrome. Issue 7 (6th May 2019) Authors: Raible, Sarah E.; Mehta, Devanshi; Bettale, Chiara; Fiordaliso, Sarah; Kaur, Maninder; Medne, Livija; Rio, Marlene; Haan, Eric; White, Susan M.; Cusmano‐Ozog, Kristina; Nishi, Eriko; Guo, Yiran; Wu, Honglin; Shi, Xiaoqing; Zhao, Qingjie; Zhang, Xueqin; Lei, Qi; Lu, Aimei; He, Xiyu; Okamoto, Nobuhiko Journal: American journal of medical genetics Issue: Volume 179:Issue 7(2019) Page Start: 1126 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Clinical courses of children with trisomy 13 receiving intensive neonatal and pediatric treatment. Issue 9 (27th August 2018) Authors: Nishi, Eriko; Takasugi, Mizue; Kawamura, Rie; Shibuya, Soichi; Takamizawa, Shigeru; Hiroma, Takehiko; Nakamura, Tomohiko; Kosho, Tomoki Journal: American journal of medical genetics Issue: Volume 176:Issue 9(2018) Page Start: 1941 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Clinical spectrum of individuals with de novo EBF3 variants or deletions. Issue 10 (29th May 2021) Authors: Nishi, Eriko; Uehara, Tomoko; Yanagi, Kumiko; Hasegawa, Yuiko; Ueda, Kimiko; Kaname, Tadashi; Yamamoto, Toshiyuki; Kosaki, Kenjiro; Okamoto, Nobuhiko Journal: American journal of medical genetics Issue: Volume 185:Issue 10(2021) Page Start: 2913 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Cover Image, Volume 38, Issue 7. Issue 7 (13th June 2017) Authors: Tanigawa, Junpei; Mimatsu, Haruka; Mizuno, Seiji; Okamoto, Nobuhiko; Fukushi, Daisuke; Tominaga, Koji; Kidokoro, Hiroyuki; Muramatsu, Yukako; Nishi, Eriko; Nakamura, Shota; Motooka, Daisuke; Nomura, Noriko; Hayasaka, Kiyoshi; Niihori, Tetsuya; Aoki, Yoko; Nabatame, Shin; Hayakawa, Masahiro; Natsu... Journal: Human mutation Issue: Volume 38:Issue 7(2017) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Cover Image, Volume 38, Issue 7. Issue 7 (July 2017) Authors: Tanigawa, Junpei; Mimatsu, Haruka; Mizuno, Seiji; Okamoto, Nobuhiko; Fukushi, Daisuke; Tominaga, Koji; Kidokoro, Hiroyuki; Muramatsu, Yukako; Nishi, Eriko; Nakamura, Shota; Motooka, Daisuke; Nomura, Noriko; Hayasaka, Kiyoshi; Niihori, Tetsuya; Aoki, Yoko; Nabatame, Shin; Hayakawa, Masahiro; Natsu... Journal: Human mutation Issue: Volume 38:Issue 7(2017) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Discordant clinical phenotype in monozygotic twins with Alagille syndrome: Possible influence of non‐genetic factors. Issue 2 (13th October 2015) Authors: Izumi, Kosuke; Hayashi, Daisuke; Grochowski, Christopher M.; Kubota, Noriko; Nishi, Eriko; Arakawa, Michiko; Hiroma, Takehiko; Hatata, Tomoko; Ogiso, Yoshifumi; Nakamura, Tomohiko; Falsey, Alexandra M.; Hidaka, Eiko; Spinner, Nancy B. Journal: American journal of medical genetics Issue: Volume 170:Issue 2(2016) Page Start: 471 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Dissecting the phenotype of supernumerary marker chromosome 20 in a patient with syndromic pierre robin sequence: Combinatorial effect of gene dosage and uniparental disomy. (2nd April 2015) Authors: Izumi, Kosuke; Kubota, Noriko; Arakawa, Michiko; Takayama, Masayoshi; Harada, Yukiko; Nakamura, Tomohiko; Nishi, Eriko; Hidaka, Eiko Journal: American journal of medical genetics Issue: Volume 167:Number 6(2015:Jun.) Page Start: 1289 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗