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2018
Mark PREPL deficiency : Delineation of the phenotype and development of a functional blood assay
Régal, Luc ; Mårtensson, Emma ^LU ; Maystadt, Isabelle ; Voermans, Nicol ; Lederer, Damien ; Burlina, Alberto ; Juan Fita, María Jesús ; Hoogeboom, A. Jeannette M. ; Olsson Engman, Mia and Hollemans, Tess , et al. (2018) In Genetics in Medicine 20(1). p.109-118
- Contribution to journal › Article
2016
Mark ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
Ng, Bobby G ; Shiryaev, Sergey A ; Rymen, Daisy ; Eklund, Erik ^LU ; Raymond, Kimiyo ; Kircher, Martin ; Abdenur, Jose E ; Alehan, Fusun ; Midro, Alina T and Bamshad, Michael J , et al. (2016) In Human Mutation
- Contribution to journal › Article