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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
...
boreal:261829. , 2021
Link:
http://hdl.handle.net/2078.1/261829
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=base-ftunivlouvain:oai:dial.uclouvain.be:boreal:261829&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 American Society for Bone and Mineral Research YR 2021 K1 Animals K1 Biological Variation K1 Population K1 Humans K1 Neoplasm Proteins K1 Osteochondrodysplasias K1 Pedigree K1 Ribosomal Proteins K1 Spine K1 Zebrafish K1 CRISPR-CAS9 K1 RPL13 K1 Incomplete penetrance K1 Ribosomopathy K1 Spondyloepimetaphyseal dysplasia K1 Variable expressivity JF boreal:261829 LK http://hdl.handle.net/2078.1/261829 DO http://hdl.handle.net/2078.1/261829 SF ELIB - SuUB Bremen
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