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1 Ergebnisse
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Novel RPL13 Variants and Variable Clinical Expressivity in ..:
Costantini, Alice
;
Alm, Jessica J
;
Tonelli, Francesca
...
Journal of Bone and Mineral Research. 36 (2020) 2 - p. 283-297 , 2020
Link:
https://doi.org/10.1002/jbmr.4177
RT Journal T1
Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia
UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_jbmr.4177&Exemplar=1&LAN=DE A1 Costantini, Alice A1 Alm, Jessica J A1 Tonelli, Francesca A1 Valta, Helena A1 Huber, Céline A1 Tran, Anh N A1 Daponte, Valentina A1 Kirova, Nadi A1 Kwon, Yong-Uk A1 Bae, Jung Yun A1 Chung, Woo Yeong A1 Tan, Shengjiang A1 Sznajer, Yves A1 Nishimura, Gen A1 Näreoja, Tuomas A1 Warren, Alan J A1 Cormier-Daire, Valérie A1 Kim, Ok-Hwa A1 Forlino, Antonella A1 Cho, Tae-Joon A1 Mäkitie, Outi PB Oxford University Press (OUP) YR 2020 SN 0884-0431 SN 1523-4681 JF Journal of Bone and Mineral Research VO 36 IS 2 SP 283 OP 297 LK http://dx.doi.org/https://doi.org/10.1002/jbmr.4177 DO https://doi.org/10.1002/jbmr.4177 SF ELIB - SuUB Bremen
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