Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis

Knaus, Alexej; Pantel, Jean Tori; Pendziwiat, Manuela; Hajjir, Nurulhuda; Zhao, Max; Hsieh, Tzung-Chien; Schubach, Max; Gurovich, Yaron; Fleischer, Nicole; Jaeger, Marten; Koehler, Sebastian; Muhle, Hiltrud; Korff, Christian; Moller, Rikke S.; Bayat, Allan; Calvas, Patrick; Chassaing, Nicolas; Warren, Hannah; Skinner, Steven; Louie, Raymond; Evers, Christina; Bohn, Marc; Christen, Hans-Juergen; van den Born, Myrthe; Obersztyn, Ewa; Charzewska, Agnieszka; Endziniene, Milda; Kortuem, Fanny; Brown, Natasha; Robinson, Peter N.; Schelhaas, Helenius J.; Weber, Yvonne; Helbig, Ingo; Mundlos, Stefan; Horn, Denise; Krawitz, Peter M.

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis

Autor(en):

Knaus, Alexej; Pantel, Jean Tori; Pendziwiat, Manuela; Hajjir, Nurulhuda; Zhao, Max; Hsieh, Tzung-Chien; Schubach, Max; Gurovich, Yaron; Fleischer, Nicole; Jaeger, Marten; Koehler, Sebastian; Muhle, Hiltrud; Korff, Christian; Moller, Rikke S.; Bayat, Allan; Calvas, Patrick; Chassaing, Nicolas; Warren, Hannah; Skinner, Steven; Louie, Raymond; Evers, Christina; Bohn, Marc; Christen, Hans-Juergen; van den Born, Myrthe; Obersztyn, Ewa; Charzewska, Agnieszka; Endziniene, Milda; Kortuem, Fanny; Brown, Natasha; Robinson, Peter N.; Schelhaas, Helenius J.; Weber, Yvonne; Helbig, Ingo; Mundlos, Stefan; Horn, Denise; Krawitz, Peter M.

Tübinger Autor(en):

Weber, Yvonne G.

Erschienen in:

Genome Medicine (2018), Bd. 10, Article 3

Verlagsangabe:

Biomed Central Ltd

Sprache:

Englisch

Referenz zum Volltext:

http://dx.doi.org/10.1186/s13073-017-0510-5

ISSN:

1756-994X