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1دورية أكاديمية
المؤلفون: Costantini, Alice, Alm, Jessica J, Tonelli, Francesca, Valta, Helena, Huber, Céline, Tran, Anh N, Daponte, Valentina, Kirova, Nadi, Kwon, Yong-Uk, Bae, Jung Yun, Chung, Woo Yeong, Tan, Shengjiang, Sznajer, Yves, Nishimura, Gen, Näreoja, Tuomas, Warren, Alan J, Cormier-Daire, Valérie, Kim, Ok-Hwa, Forlino, Antonella, Cho, Tae-Joon, Mäkitie, Outi
المساهمون: UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Centre de référence neuromusculaire, UCL - SSS/IREC/SLUC - Pôle St.-Luc
المصدر: Journal of bone and mineral research, Vol. 36, no. 2, p. 283-297 (2021)
مصطلحات موضوعية: Animals, Biological Variation, Population, Humans, Neoplasm Proteins, Osteochondrodysplasias, Pedigree, Ribosomal Proteins, Spine, Zebrafish, CRISPR-CAS9, RPL13, Incomplete penetrance, Ribosomopathy, Spondyloepimetaphyseal dysplasia, Variable expressivity
العلاقة: boreal:261829; http://hdl.handle.net/2078.1/261829Test; info:pmid/32916022; urn:ISSN:0884-0431; urn:EISSN:1523-4681
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2دورية أكاديمية
المؤلفون: Costantini, Alice, Alm, Jessica J, Tonelli, Francesca, Valta, Helena, Huber, Céline, Tran, Anh N, Daponte, Valentina, Kirova, Nadi, Kwon, Yong-Uk, Bae, Jung Yun, Chung, Woo Yeong, Tan, Shengjiang, Sznajer, Yves, Nishimura, Gen, Näreoja, Tuomas, Warren, Alan J, Cormier-Daire, Valérie, Kim, Ok-Hwa, Forlino, Antonella, Cho, Tae-Joon, Mäkitie, Outi
المساهمون: UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Centre de référence neuromusculaire, UCL - SSS/IREC/SLUC - Pôle St.-Luc
المصدر: Journal of bone and mineral research, Vol. 36, no. 2, p. 283-297 (2021)
مصطلحات موضوعية: Animals, Biological Variation, Population, Humans, Neoplasm Proteins, Osteochondrodysplasias, Pedigree, Ribosomal Proteins, Spine, Zebrafish, CRISPR-CAS9, RPL13, Incomplete penetrance, Ribosomopathy, Spondyloepimetaphyseal dysplasia, Variable expressivity
العلاقة: boreal:261829; http://hdl.handle.net/2078.1/261829Test; info:pmid/32916022; urn:ISSN:0884-0431; urn:EISSN:1523-4681