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1 Ergebnisse
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Novel RPL13 variants and evidence for incomplete penetrance..:
Costantini, Alice
;
Alm, Jessica J.
;
Tonelli, Francesca
...
Bone Reports. 13 (2020) - p. 100647 , 2020
Link:
https://doi.org/10.1016/j.bonr.2020.100647
RT Journal T1
Novel RPL13 variants and evidence for incomplete penetrance in a human ribosomopathy with spondyloepimetaphyseal dysplasia
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.bonr.2020.100647&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 Elsevier BV YR 2020 SN 2352-1872 JF Bone Reports VO 13 SP 100647 LK http://dx.doi.org/https://doi.org/10.1016/j.bonr.2020.100647 DO https://doi.org/10.1016/j.bonr.2020.100647 SF ELIB - SuUB Bremen
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