81. SHOX haploinsufficiency and overdosage: impact of gonadal function status. Issue 1 (1st January 2001) Authors: Ogata, Tsutomu; Matsuo, Nobutake; Nishimura, Gen Journal: Journal of medical genetics Issue: Volume 38:Issue 1(2001) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
82. Skeletal abnormalities are common features in Aymé‐Gripp syndrome. Issue 2 (3rd November 2019) Authors: Niceta, Marcello; Barbuti, Domenico; Gupta, Neerja; Ruggiero, Carlos; Tizzano, Eduardo F.; Graul‐Neumann, Luitgard; Barresi, Sabina; Nishimura, Gen; Valenzuela, Irene; López‐Grondona, Fermina; Fernandez‐Alvarez, Paula; Leoni, Chiara; Zweier, Christiane; Tzschach, Andreas; Stellacci, Emilia; Del F... Journal: Clinical genetics Issue: Volume 97:Issue 2(2020) Page Start: 362 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
83. SLC4A2 Deficiency Causes a New Type of Osteopetrosis. (11th November 2021) Authors: Xue, Jing‐Yi; Grigelioniene, Giedre; Wang, Zheng; Nishimura, Gen; Iida, Aritoshi; Matsumoto, Naomichi; Tham, Emma; Miyake, Noriko; Ikegawa, Shiro; Guo, Long Journal: Journal of bone and mineral research Issue: Volume 37:Number 2(2022) Page Start: 226 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
84. Stippled calcification in an infant with a recurrent SRCAP gene mutation. Issue 4 (20th January 2016) Authors: Yagi, Hiroko; Takagi, Masaki; Narumi, Satoshi; Hasegawa, Tomonobu; Nishimura, Gen; Hasegawa, Yukihiro Journal: American journal of medical genetics Issue: Volume 170:Issue 4(2016) Page Start: 1088 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
85. The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function. Issue 3 (21st December 2018) Authors: Girisha, Katta M.; von Elsner, Leonie; Neethukrishna, Kausthubham; Muranjan, Mamta; Shukla, Anju; Bhavani, Gandham SriLakshmi; Nishimura, Gen; Kutsche, Kerstin; Mortier, Geert Journal: Human mutation Issue: Volume 40:Issue 3(2019) Page Start: 299 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
86. The phenotype range of achondrogenesis 1A. Issue 10 (16th August 2013) Authors: Grigelioniene, Giedre; Geiberger, Stefan; Papadogiannakis, Nikos; Mäkitie, Outi; Nishimura, Gen; Nordgren, Ann; Conner, Peter Journal: American journal of medical genetics Issue: Volume 161:Issue 10(2013:Oct.) Page Start: 2554 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
87. The Shwachman–Bodian–Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type. Issue 4 (30th March 2007) Authors: Nishimura, Gen; Nakashima, Eiji; Hirose, Yuichiro; Cole, Trevor; Cox, Phillip; Cohn, Daniel H; Rimoin, David L; Lachman, Ralph S; Miyamoto, Yoshinari; Kerr, Bronwyn; Unger, Sheila; Ohashi, Hirofumi; Superti-Furga, Andrea; Ikegawa, Shiro Journal: Journal of medical genetics Issue: Volume 44:Issue 4(2007) Page Start: e73 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
88. TNFRSF11A‐Associated Dysosteosclerosis: A Report of the Second Case and Characterization of the Phenotypic Spectrum. (5th August 2019) Authors: Xue, Jing‐yi; Wang, Zheng; Shinagawa, Satoshi; Ohashi, Hirofumi; Otomo, Nao; Elcioglu, Nursel H; Nakashima, Tomoki; Nishimura, Gen; Ikegawa, Shiro; Guo, Long Journal: Journal of bone and mineral research Issue: Volume 34:Number 10(2019) Page Start: 1873 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
89. Trismus-pseudocamptodactyly syndrome with bilateral hypoplastic mandibular condyles and shallow mandibular fossa: A case report. Issue 2 (July 2018) Authors: Kusano, Chieko; Hori, Naoaki; Izawa, Kazumi; Kosaki, Rika; Nishimura, Gen; Hasegawa, Tomonobu Journal: Oral science international Issue: Volume 15:Issue 2(2018) Page Start: 90 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
90. Trismus‐pseudocamptodactyly syndrome with bilateral hypoplastic mandibular condyles and shallow mandibular fossa: A case report. Issue 2 (2nd April 2018) Authors: Kusano, Chieko; Hori, Naoaki; Izawa, Kazumi; Kosaki, Rika; Nishimura, Gen; Hasegawa, Tomonobu Journal: Oral science international Issue: Volume 15:Issue 2(2018) Page Start: 90 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗