PREPL deficiency: delineation of the phenotype and development of a functional blood assay

L Regal, E Martensson, I Maystadt, N Voermans, D Lederer, A Burlina, MJJ Fita, Jeannette Hoogeboom, MO Engman, T Hollemans, Marianne Schouten, S Meulemans, T Jonson, I Francois, DG Ortega, EJ Kamsteeg, JWM Creemers

Research output: Contribution to journalArticleAcademicpeer-review

24 Citations (Scopus)
Original languageUndefined/Unknown
Pages (from-to)109-118
Number of pages10
JournalGenetics in Medicine
Volume20
Issue number1
DOIs
Publication statusPublished - 2018

Research programs

  • EMC OR-01

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