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1 Ergebnisse
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P569: Identification of a novel, deep-intronic alteration i..:
Tedder, Matthew
;
Coleman, Jessica Cooley
;
Childers, Anna
...
Genetics in Medicine Open. 1 (2023) 1 - p. 100616 , 2023
Link:
https://doi.org/10.1016/j.gimo.2023.100616
RT Journal T1
P569: Identification of a novel, deep-intronic alteration in KDM6A: How a multi-omics approach ended a 10+ year diagnostic odyssey*
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.gimo.2023.100616&Exemplar=1&LAN=DE A1 Tedder, Matthew A1 Coleman, Jessica Cooley A1 Childers, Anna A1 Kerkhof, Jennifer A1 Louie, Raymond A1 Lee, Jennifer A1 Friez, Michael A1 Sadikovic, Bekim A1 Everman, David A1 Rogers, Richard A1 Caylor, Raymond PB Elsevier BV YR 2023 SN 2949-7744 JF Genetics in Medicine Open VO 1 IS 1 SP 100616 LK http://dx.doi.org/https://doi.org/10.1016/j.gimo.2023.100616 DO https://doi.org/10.1016/j.gimo.2023.100616 SF ELIB - SuUB Bremen
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