未登录.png)
分享.png)
收藏分享 收藏 分享 收藏 Genetic and allelic heterogeneity in 248 Indians with skeletal dysplasia
Jacob, Prince; Singh, Swati; Bhavani, Gandham SriLakshmi; Gowrishankar, Kalpana; Narayanan, Dhanya Lakshmi; Nampoothiri, Sheela; Patil, S. J.; Soni, J. P.; Muranjan, Mamta; Kapoor, Seema; Dhingra, Bhavna; Bhat, Ballambattu Vishnu; Bajaj, Shruti; Banerjee, Amrita; Mamadapur, Mahabaleshwar; Hariharan, Sankar V.; Kamath, Nutan; Shenoy, Rathika D.; Suri, Deepti; Shukla, Anju; Dalal, Ashwin; Phadke, Shubha R.; Nishimura, Gen; Mortier, Geert; Shah, Hitesh; Girisha, Katta M. 分享 收藏 RASopathies for RadiologistsHanda, Atsuhiko; Tsujioka, Yuko; Nishimura, Gen; Nozaki, Taiki; Kono, Tatsuo; Jinzaki, Masahiro; Harms, Taylor; Connolly, Susan A.; Sato, Takashi Shawn; Sato, Yutaka 分享 收藏 分享 收藏 Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humansGuo, Long; Salian, Smrithi; Xue, Jing-yi; Rath, Nicola; Rousseau, Justine; Kim, Hyunyun; Ehresmann, Sophie; Moosa, Shahida; Nakagawa, Norio; Kuroda, Hiroshi; Clayton-Smith, Jill; Wang, Juan; Wang, Zheng; Banka, Siddharth; Jackson, Adam; Zhang, Yan-min; Wei, Zhen-jie; Huening, Irina; Brunet, Theresa; Ohashi, Hirofumi; Thomas, Molly F.; Bupp, Caleb; Miyake, Noriko; Matsumoto, Naomichi; Mendoza-Londono, Roberto; Costain, Gregory; Hahn, Gabriele; Donato, Nataliya Di; Yigit, Goekhan; Yamada, Takahiro; Nishimura, Gen; Ansel, K. Mark; Wollnik, Bernd; de Angelis, Martin Hrabe; Megarbane, Andre; Rosenfeld, Jill A.; Heissmeyer, Vigo; Ikegawa, Shiro; Campeau, Philippe M. 分享 收藏 分享 收藏 Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related DisordersBatkovskyte, Dominyka; McKenzie, Fiona; Taylan, Fulya; Simsek-Kiper, Pelin Ozlem; Nikkel, Sarah M.; Ohashi, Hirofumi; Stevenson, Roger E.; Ha, Thuong; Cavalcanti, Denise P.; Miyahara, Hiroyuki; Skinner, Steven A.; Aguirre, Miguel A.; Akcoeren, Zuehal; Utine, Gulen Eda; Chiu, Tillie; Shimizu, Kenji; Hammarsjoe, Anna; Boduroglu, Koray; Moore, Hannah W.; Louie, Raymond J.; Arts, Peer; Merrihew, Allie N.; Babic, Milena; Jackson, Matilda R.; Papadogiannakis, Nikos; Lindstrand, Anna; Nordgren, Ann; Barnett, Christopher P.; Scott, Hamish S.; Chagin, Andrei S.; Nishimura, Gen; Grigelioniene, Giedre 分享 收藏 A hypomorphic variant in the translocase of the outer mitochondrial membrane complex subunit TOMM7 causes short stature and developmental delayYoung, Cameron; Batkovskyte, Dominyka; Kitamura, Miyuki; Shvedova, Maria; Mihara, Yutaro; Akiba, Jun; Zhou, Wen; Hammarsjo, Anna; Nishimura, Gen; Yatsuga, Shuichi; Grigelioniene, Giedre; Kobayashi, Tatsuya 分享 收藏 Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG)三名日本N-乙酰神经氨酸合成酶-先天性糖基化障碍 (NANS-CDG) 患者的临床和分子发现Masunaga, Yohei; Nishimura, Gen; Takahashi, Koji; Hishiyama, Tomiyuki; Imamura, Masatoshi; Kashimada, Kenichi; Kadoya, Machiko; Wada, Yoshinao; Okamoto, Nobuhiko; Oba, Daiju; Ohashi, Hirofumi; Ikeno, Mitsuru; Sakamoto, Yuko; Fukami, Maki; Saitsu, Hirotomo; Ogata, Tsutomu 分享 收藏 Multisystem Imaging Manifestations of Kawasaki DiseaseTsujioka, Yuko; Handa, Atsuhiko; Nishimura, Gen; Miura, Masaru; Yokoyama, Koji; Sato, Kozo; Handa, Hideo; Jinzaki, Masahiro; Nosaka, Shunsuke; Kono, Tatsuo 分享 收藏 SLC4A2 Deficiency Causes a New Type of OsteopetrosisXue, Jing-Yi; Grigelioniene, Giedre; Wang, Zheng; Nishimura, Gen; Iida, Aritoshi; Matsumoto, Naomichi; Tham, Emma; Miyake, Noriko; Ikegawa, Shiro; Guo, Long 分享 收藏 分享 收藏 分享 收藏 Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signalingTMEM53的缺乏通过bmp-smad信号的失调导致先前未知的硬化性骨疾病Guo, Long; Iida, Aritoshi; Bhavani, Gandham SriLakshmi; Gowrishankar, Kalpana; Wang, Zheng; Xue, Jing-yi; Wang, Juan; Miyake, Noriko; Matsumoto, Naomichi; Hasegawa, Takanori; Iizuka, Yusuke; Matsuda, Masashi; Nakashima, Tomoki; Takechi, Masaki; Iseki, Sachiko; Yambe, Shinsei; Nishimura, Gen; Koseki, Haruhiko; Shukunami, Chisa; Girisha, Katta M.; Ikegawa, Shiro 分享 收藏 分享 收藏 分享 收藏 Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia双等位基因cGMP依赖性II型蛋白激酶基因 (PRKG2) 变体导致新的肢端发育不良Diaz-Gonzalez, Francisca; Wadhwa, Saruchi; Rodriguez-Zabala, Maria; Kumar, Somesh; Aza-Carmona, Miriam; Sentchordi-Montane, Lucia; Alonso, Milagros; Ahmad, Istaq; Zahra, Sana; Kumar, Deepak; Kushwah, Neetu; Shamim, Uzma; Sait, Haseena; Kapoor, Seema; Roldan, Belen; Nishimura, Gen; Offiah, Amaka C.; Faruq, Mohammed; Heath, Karen E. 分享 收藏 NovelRPL13Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal DysplasiaCostantini, Alice; Alm, Jessica J.; Tonelli, Francesca; Valta, Helena; Huber, Celine; Tran, Anh N.; Daponte, Valentina; Kirova, Nadi; Kwon, Yong-Uk; Bae, Jung Yun; Chung, Woo Yeong; Tan, Shengjiang; Sznajer, Yves; Nishimura, Gen; Nareoja, Tuomas; Warren, Alan J.; Cormier-Daire, Valerie; Kim, Ok-Hwa; Forlino, Antonella; Cho, Tae-Joon; Makitie, Outi 分享 收藏 
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
