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1 Ergebnisse
1
Heterozygous pathogenic variants involving cause a new skel..:
Beyltjens, Tessi
;
Boudin, Eveline
;
Revencu, Nicole
...
boreal:282670. , 2023
Link:
http://hdl.handle.net/2078.1/282670
RT Journal T1
Heterozygous pathogenic variants involving cause a new skeletal disorder resembling cleidocranial dysplasia
UL https://suche.suub.uni-bremen.de/peid=base-ftunistlouisbrus:oai:dial.uclouvain.be:boreal:282670&Exemplar=1&LAN=DE A1 Beyltjens, Tessi A1 Boudin, Eveline A1 Revencu, Nicole A1 Boeckx, Nele A1 Bertrand, Miriam A1 Schütz, Leon A1 Haack, Tobias B A1 Weber, Axel A1 Biliouri, Eleni A1 VinkÅ¡el, Mateja A1 Zagožen, Anja A1 Peterlin, Borut A1 Pai, Shashidhar A1 Telegrafi, Aida A1 Henderson, Lindsay B A1 Ells, Courtney A1 Turner, Lesley A1 Wuyts, Wim A1 Van Hul, Wim A1 Hendrickx, Gretl A1 Mortier, Geert R YR 2023 K1 Humans K1 Base Sequence K1 Cleidocranial Dysplasia K1 Codon K1 Nonsense K1 Core Binding Factor Alpha 1 Subunit K1 Core Binding Factor beta Subunit K1 Exons K1 genetic variation K1 human genetics K1 musculoskeletal diseases K1 phenotype JF boreal:282670 LK http://hdl.handle.net/2078.1/282670 DO http://hdl.handle.net/2078.1/282670 SF ELIB - SuUB Bremen
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