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1 Ergebnisse
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Heterozygous pathogenic variants involvingCBFBcause a new s..:
Beyltjens, Tessi
;
Boudin, Eveline
;
Revencu, Nicole
...
Journal of Medical Genetics. 60 (2022) 5 - p. 498-504 , 2022
Link:
https://doi.org/10.1136/jmg-2022-108739
RT Journal T1
Heterozygous pathogenic variants involvingCBFBcause a new skeletal disorder resembling cleidocranial dysplasia
UL https://suche.suub.uni-bremen.de/peid=cr-10.1136_jmg-2022-108739&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 Vinkšel, 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 PB BMJ YR 2022 SN 0022-2593 SN 1468-6244 JF Journal of Medical Genetics VO 60 IS 5 SP 498 OP 504 LK http://dx.doi.org/https://doi.org/10.1136/jmg-2022-108739 DO https://doi.org/10.1136/jmg-2022-108739 SF ELIB - SuUB Bremen
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