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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
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3دورية أكاديمية
المؤلفون: Gensure, Robert C, Mäkitie, Outi, Barclay, Catherine, Chan, Catherine, Depalma, Steven R, Bastepe, Murat, Abuzahra, Hilal, Couper, Richard, Mundlos, Stefan, Sillence, David, Ala Kokko, Leena, Seidman, Jonathan G, Cole, William G, Jüppner, Harald
المصدر: Department of Pathology & Laboratory Medicine
مصطلحات موضوعية: Bone and Bones, Chromosome Mapping, Chromosomes, Human, Pair 17, Collagen Type I, alpha 1 Chain, Dermis, Female, Fibula, Haplotypes, Humans, Hyperostosis, Cortical, Congenital, Infant, Male, Mutation, Pedigree, Radiography, Tibia, Department of Pathology and Laboratory Medicine, Medicine and Health Sciences
العلاقة: https://scholarlyworks.lvhn.org/pathology-laboratory-medicine/1298Test; https://pubmed.ncbi.nlm.nih.gov/15864348Test/