11. A patient with Temple syndrome satisfying the clinical diagnostic criteria of Silver–Russell syndrome. Issue 9 (30th June 2016) Authors: Goto, Masahide; Kagami, Masayo; Nishimura, Gen; Yamagata, Takanori Journal: American journal of medical genetics Issue: Volume 170:Issue 9(2016) Page Start: 2483 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
12. A recurrent mutation in the 5′‐UTR of IFITM5 causes osteogenesis imperfecta type V. Issue 8 (27th June 2013) Authors: Takagi, Masaki; Sato, Shuhei; Hara, Keiichi; Tani, Chihiro; Miyazaki, Osamu; Nishimura, Gen; Hasegawa, Tomonobu Journal: American journal of medical genetics Issue: Volume 161:Issue 8(2013:Aug.) Page Start: 1980 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
13. Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2. Issue 10 (10th July 2014) Authors: Mitsui, Toshikatsu; Kim, Ok‐Hwa; Hall, Christine M.; Offiah, Amaka; Johnson, Diana; Jin, Dong‐Kyu; Toh, Teck‐Hock; Soneda, Shun; Keino, Dai; Matsubayashi, Shohei; Ishii, Tomohiro; Nishimura, Gen; Hasegawa, Tomonobu Journal: American journal of medical genetics Issue: Volume 164:Issue 10(2014.) Page Start: 2529 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
14. Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2. Issue 10 (10th July 2014) Authors: Mitsui, Toshikatsu; Kim, Ok‐Hwa; Hall, Christine M.; Offiah, Amaka; Johnson, Diana; Jin, Dong‐Kyu; Toh, Teck‐Hock; Soneda, Shun; Keino, Dai; Matsubayashi, Shohei; Ishii, Tomohiro; Nishimura, Gen; Hasegawa, Tomonobu Journal: American journal of medical genetics Issue: Volume 164:Issue 10(2014.) Page Start: 2529 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
15. Additional report on Moreno‐Nishimura‐Schmidt overgrowth syndrome. Issue 10 (25th July 2017) Authors: Handa, Atsuhiko; Muroya, Koji; Ishii, Tomohiro; Nishimura, Gen Journal: American journal of medical genetics Issue: Volume 173:Issue 10(2017) Page Start: 2834 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
16. Additional three patients with Smith‐McCort dysplasia due to novel RAB33B mutations. Issue 3 (27th January 2017) Authors: Salian, Smrithi; Cho, Tae‐Joon; Phadke, Shubha R.; Gowrishankar, Kalpana; Bhavani, Gandham SriLakshmi; Shukla, Anju; Jagadeesh, Sujatha; Kim, Ok‐Hwa; Nishimura, Gen; Girisha, Katta M. Journal: American journal of medical genetics Issue: Volume 173:Issue 3(2017) Page Start: 588 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
17. Alu‐Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias. Issue 10 (22nd August 2018) Authors: Pettersson, Maria; Vaz, Raquel; Hammarsjö, Anna; Eisfeldt, Jesper; Carvalho, Claudia M.B.; Hofmeister, Wolfgang; Tham, Emma; Horemuzova, Eva; Voss, Ulrika; Nishimura, Gen; Klintberg, Bo; Nordgren, Ann; Nilsson, Daniel; Grigelioniene, Giedre; Lindstrand, Anna Journal: Human mutation Issue: Volume 39:Issue 10(2018) Page Start: 1456 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
18. Antenatal diagnostic dilemma in a pseudodominant pedigree with lamin‐B receptor (LBR)‐related regressive spondylometaphyseal dysplasia. Issue 1 (31st August 2021) Authors: Turgut, Gozde Tutku; Güleç, Çağrı; Sarac Sivrikoz, Tugba; Kale, Hamdi; Karaman, Birsen; Nishimura, Gen; Altunoglu, Umut Journal: American journal of medical genetics Issue: Volume 188:Issue 1(2022) Page Start: 253 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
19. Aortic aneurysm and craniosynostosis in a family with Cantu syndrome. Issue 1 (25th November 2013) Authors: Hiraki, Yoko; Miyatake, Satoko; Hayashidani, Michiko; Nishimura, Yutaka; Matsuura, Hiroo; Kamada, Masahiro; Kawagoe, Takuji; Yunoki, Keiji; Okamoto, Nobuhiko; Yofune, Hiroko; Nakashima, Mitsuko; Tsurusaki, Yoshinori; Satisu, Hirotomo; Murakami, Akira; Miyake, Noriko; Nishimura, Gen; Matsumoto, Na... Journal: American journal of medical genetics Issue: Volume 164:Issue 1(2014.) Page Start: 231 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
20. Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia. Issue 1 (26th October 2020) Authors: Díaz-González, Francisca; Wadhwa, Saruchi; Rodriguez-Zabala, Maria; Kumar, Somesh; Aza-Carmona, Miriam; Sentchordi-Montané, Lucia; Alonso, Milagros; Ahmad, Istaq; Zahra, Sana; Kumar, Deepak; Kushwah, Neetu; Shamim, Uzma; Sait, Haseena; Kapoor, Seema; Roldán, Belen; Nishimura, Gen; Offiah, Amaka C... Journal: Journal of medical genetics Issue: Volume 59:Issue 1(2022) Page Start: 28 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗