1. A novel mutation Ser344Cys in FGFR3 causes achondroplasia with severe platyspondyly. (30th June 2015) Authors: Takagi, Masaki; Kouwaki, Masanori; Kawase, Koya; Shinohara, Hiroyuki; Hasegawa, Yukihiro; Yamada, Takahiro; Fujiwara, Ikuma; Sawai, Hideaki; Nishimura, Gen; Hasegawa, Tomonobu Journal: American journal of medical genetics Issue: Volume 167:Number 11(2015:Nov.) Page Start: 2851 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Criteria of radiological diagnosis for neonates with hypochondroplasia. (December 2015) Authors: Nagasaki, Keisuke; Saito, Tomoko; Takagi, Masaki; Hasegawa, Tomonobu; Nishimura, Gen Journal: International journal of pediatric endocrinology Issue: Volume 2015(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 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) ↗
4. Identification and In Vivo Functional Characterization of Novel Compound Heterozygous BMP1 Variants in Osteogenesis Imperfecta. Issue 2 (February 2015) Authors: Cho, Sung Yoon; Asharani, P.V.; Kim, Ok‐Hwa; Iida, Aritoshi; Miyake, Noriko; Matsumoto, Naomichi; Nishimura, Gen; Ki, Chang‐Seok; Hong, Geehay; Kim, Su Jin; Sohn, Young Bae; Park, Sung Won; Lee, Jieun; Kwun, Younghee; Carney, Thomas J.; Huh, Rimm; Ikegawa, Shiro; Jin, Dong‐Kyu Journal: Human mutation Issue: Volume 36:Issue 2(2015:Feb.) Page Start: 191 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type. Issue 7 (1st June 2015) Authors: Flöttmann, Ricarda; Wagner, Johannes; Kobus, Karolina; Curry, Cynthia J; Savarirayan, Ravi; Nishimura, Gen; Yasui, Natsuo; Spranger, Jürgen; Van Esch, Hilde; Lyons, Michael J; DuPont, Barbara R; Dwivedi, Alka; Klopocki, Eva; Horn, Denise; Mundlos, Stefan; Spielmann, Malte Journal: Journal of medical genetics Issue: Volume 52:Issue 7(2015) Page Start: 476 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 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) ↗
7. Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo‐meta‐epiphyseal dysplasia, short limb‐abnormal calcification type. Issue 2 (13th October 2015) Authors: Mansouri, Maria; Kayserili, Hülya; Elalaoui, Siham Chafai; Nishimura, Gen; Iida, Aritoshi; Lyahyai, Jaber; Miyake, Noriko; Matsumoto, Naomichi; Sefiani, Abdelaziz; Ikegawa, Shiro Journal: American journal of medical genetics Issue: Volume 170:Issue 2(2016) Page Start: 460 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Painless lumps in the proximal interphalangeal joints in tricho‐rhino‐phalangeal syndrome type 1. Issue 3 (June 2015) Authors: Miyamae, Takako; Nishimura, Gen; Kishi, Takayuki; Shimomura, Yutaka; Yamanaka, Hisashi Journal: Pediatrics international Issue: Volume 57:Issue 3(2015) Page Start: 507 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu. Issue 1 (30th September 2015) Authors: Hammarsjö, Anna; Nordgren, Ann; Lagerstedt‐Robinson, Kristina; Malmgren, Helena; Nilsson, Daniel; Wedrén, Sara; Nordenskjöld, Magnus; Nishimura, Gen; Grigelioniene, Giedre Journal: American journal of medical genetics Issue: Volume 170:Issue 1(2016) Page Start: 266 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Polyostotic osteolysis and hypophosphatemic rickets with elevated serum fibroblast growth factor 23: A case report. (8th June 2015) Authors: Sato, Takeshi; Muroya, Koji; Asakura, Yumi; Yachie, Akihiro; Nishimura, Gen; Aida, Noriko; Machida, Jiro; Tanaka, Yukichi; Hasegawa, Tomonobu; Adachi, Masanori Journal: American journal of medical genetics Issue: Volume 167:Number 10(2015:Oct.) Page Start: 2430 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗