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PREPL deficiency: delineation of the phenotype and developm..:
Régal, Luc
;
Mårtensson, Emma
;
Maystadt, Isabelle
...
Genetics in Medicine. 20 (2018) 1 - p. 109-118 , 2018
Link:
https://doi.org/10.1038/gim.2017.74
RT Journal T1
PREPL deficiency: delineation of the phenotype and development of a functional blood assay
UL https://suche.suub.uni-bremen.de/peid=cr-10.1038_gim.2017.74&Exemplar=1&LAN=DE A1 Régal, Luc A1 Mårtensson, Emma A1 Maystadt, Isabelle A1 Voermans, Nicol A1 Lederer, Damien A1 Burlina, Alberto A1 Juan Fita, María Jesús A1 Hoogeboom, A. Jeannette M. A1 Olsson Engman, Mia A1 Hollemans, Tess A1 Schouten, Meyke A1 Meulemans, Sandra A1 Jonson, Tord A1 François, Inge A1 Gil Ortega, David A1 Kamsteeg, Erik-Jan A1 Creemers, John W.M. PB Elsevier BV YR 2018 SN 1098-3600 JF Genetics in Medicine VO 20 IS 1 SP 109 OP 118 LK http://dx.doi.org/https://doi.org/10.1038/gim.2017.74 DO https://doi.org/10.1038/gim.2017.74 SF ELIB - SuUB Bremen
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