Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis
ContributorsKnaus, Alexej; Pantel, Jean Tori; Pendziwiat, Manuela; Hajjir, Nurulhuda; Zhao, Max; Hsieh, Tzung-Chien; Schubach, Max; Gurovich, Yaron; Fleischer, Nicole; Jäger, Marten; Köhler, Sebastian; Muhle, Hiltrud; Korff, Christian
; Møller, Rikke S; Bayat, Allan; Calvas, Patrick; Chassaing, Nicolas; Warren, Hannah; Skinner, Steven; Louie, Raymond; Evers, Christina; Bohn, Marc; Christen, Hans-Jürgen; van den Born, Myrthe; Obersztyn, Ewa; Charzewska, Agnieszka; Endziniene, Milda; Kortüm, Fanny; Brown, Natasha; Robinson, Peter N; Schelhaas, Helenius J; Weber, Yvonne; Helbig, Ingo; Mundlos, Stefan; Horn, Denise; Krawitz, Peter M
Published inGenome Medicine, vol. 10, no. 3, p. 1-13
Publication date2018
Abstract
Keywords
- Anchor biosynthesis defects
- Automated image analysis
- GPI
- Gene
- Prediction
Affiliation entities
Citation (ISO format)
KNAUS, Alexej et al. Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis. In: Genome Medicine, 2018, vol. 10, n° 3, p. 1–13. doi: 10.1186/s13073-017-0510-5
Main files (1)
Article (Published version)
Identifiers
- PID : unige:124335
- DOI : 10.1186/s13073-017-0510-5
- PMID : 29310717
Journal ISSN1756-994X