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1 Ergebnisse
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P462: Importance of genomic reanalysis to uncover medical u..:
Fulmer, Makenzie
;
Velinder, Matt
;
Andrews, Ashley
...
Genetics in Medicine Open. 1 (2023) 1 - p. 100509 , 2023
Link:
https://doi.org/10.1016/j.gimo.2023.100509
RT Journal T1
P462: Importance of genomic reanalysis to uncover medical unknowns: A UDN case with phenotypic extension of spondyloepimetaphyseal dysplasia with hypomyelinating leukodystrophy
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.gimo.2023.100509&Exemplar=1&LAN=DE A1 Fulmer, Makenzie A1 Velinder, Matt A1 Andrews, Ashley A1 Butterfield, Russell A1 Mao, Rong A1 Santucci, Kourtney A1 Botto, Lorenzo A1 Bayrak-Toydemir, Pinar PB Elsevier BV YR 2023 SN 2949-7744 JF Genetics in Medicine Open VO 1 IS 1 SP 100509 LK http://dx.doi.org/https://doi.org/10.1016/j.gimo.2023.100509 DO https://doi.org/10.1016/j.gimo.2023.100509 SF ELIB - SuUB Bremen
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