1. Femoral‐tibial‐digital malformations in a boy with the Japanese founder triplication of BHLHA9. (3rd September 2015) Authors: Nagata, Eiko; Haga, Nobuhiko; Fujisawa, Yasuko; Fukami, Maki; Nishimura, Gen; Ogata, Tsutomu Journal: American journal of medical genetics Issue: Volume 167:Number 12(2015:Dec.) Page Start: 3226 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Nosology and classification of genetic skeletal disorders: 2015 revision. (23rd September 2015) Authors: Bonafe, Luisa; Cormier‐Daire, Valerie; Hall, Christine; Lachman, Ralph; Mortier, Geert; Mundlos, Stefan; Nishimura, Gen; Sangiorgi, Luca; Savarirayan, Ravi; Sillence, David; Spranger, Jürgen; Superti‐Furga, Andrea; Warman, Matthew; Unger, Sheila Journal: American journal of medical genetics Issue: Volume 167:Number 12(2015:Dec.) Page Start: 2869 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Cover Image, Volume 173A, Number 3, March 2017. Issue 3 (March 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: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination. Issue 12 (December 2018) Authors: Takagi, Masaki; Shimomura, Satoshi; Fukuzawa, Ryuji; Narumi, Satoshi; Nishimura, Gen; Hasegawa, Tomonobu Journal: Journal of human genetics Issue: Volume 63:Issue 12(2018) Page Start: 1277 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination. Issue 12 (December 2018) Authors: Takagi, Masaki; Shimomura, Satoshi; Fukuzawa, Ryuji; Narumi, Satoshi; Nishimura, Gen; Hasegawa, Tomonobu Journal: Journal of human genetics Issue: Volume 63:Issue 12(2018) Page Start: 1277 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Myhre syndrome: Age‐dependent progressive phenotype. Issue 11 (29th November 2017) Authors: Nomura, Risa; Miyai, Kentaro; Nishimura, Gen; Kashimada, Kenichi; Morio, Tomohiro Journal: Pediatrics international Issue: Volume 59:Issue 11(2017) Page Start: 1205 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Cyclic intravenous pamidronate in a very low‐birthweight infant with osteogenesis imperfecta. Issue 5 (26th April 2018) Authors: Eto, Shohei; Hada, Satoshi; Fukuhara, Rie; Nishimura, Gen; Takagi, Masaki Journal: Pediatrics international Issue: Volume 60:Issue 5(2018) Page Start: 485 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2. (4th January 2018) Authors: Leal, Gabriela Ferraz; Nishimura, Gen; Voss, Ulrika; Bertola, Débora Romeo; Åström, Eva; Svensson, Johan; Yamamoto, Guilherme Lopes; Hammarsjö, Anna; Horemuzova, Eva; Papadogiannakis, Nikos; Iwarsson, Erik; Grigelioniene, Giedre; Tham, Emma Journal: Journal of bone and mineral research Issue: Volume 33:Number 4(2018) Page Start: 753 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. 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) ↗
10. National survey of prevalence and prognosis of thanatophoric dysplasia in Japan. Issue 8 (27th August 2019) Authors: Sawai, Hideaki; Oka, Kaname; Ushioda, Mariko; Nishimura, Gen; Omori, Takashi; Numabe, Hironao; Kosugi, Shinji Journal: Pediatrics international Issue: Volume 61:Issue 8(2019) Page Start: 748 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗