Onderzoeker
Erika Souche
- Disciplines:Diagnostiek, Laboratoriumgeneeskunde, Medicinale producten
Affiliaties
- Laboratorium voor Moleculaire Diagnostiek (Afdeling)
Lid
Vanaf1 feb 2012 → 31 dec 2017
Publicaties
1 - 10 van 30
- Recommendations for whole genome sequencing in diagnostics for rare diseases(2022)
Auteurs: Erika Souche, Gert Matthijs
Pagina's: 1017 - 1021 - CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking(2022)
Auteurs: Matthew Wilson, Erika Souche, Daisy Rymen, Gert Matthijs
Pagina's: 2571 - 2581 - Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings(2021)
Auteurs: Matthew Wilson, Erika Souche, Daisy Rymen, Peter Witters, Gert Matthijs
Pagina's: 2130 - 2144 - SLC37A4-CDG: Second patient(2021)
Auteurs: Matthew Wilson, Daisy Rymen, Erika Souche, Gert Matthijs
Pagina's: 122 - 128 - [C-11]JNJ54173717, a novel P2X7 receptor radioligand as marker for neuroinflammation: human biodistribution, dosimetry, brain kinetic modelling and quantification of brain P2X7 receptors in patients with Parkinson's disease and healthy volunteers(2019)
Auteurs: Donatienne Van Weehaeghe, Michel Koole, Erika Souche, Stefan Sunaert, Guy Bormans, Wim Vandenberghe, Koenraad Van Laere
Pagina's: 2051 - 2064 - Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype.(2019)
Auteurs: Eline Blommaert, Romain Péanne, Daisy Rymen, Frederik Staels, Erika Souche, Rik Schrijvers, François Foulquier, Gert Matthijs
Pagina's: 9865 - 9870 - Acute Drug Effects on the Human Placental Tissue: The Development of a Placental Murine Xenograft Model(2018)
Auteurs: Magali Verheecke, Sandra Tuyaerts, Erika Souche, Jeroen Van Houdt, Kristel Van Calsteren, Frédéric Amant
Pagina's: 1637 - 1648 - Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next-generation sequencing(2018)
Auteurs: Molka Kammoun, Erika Souche, Jia Ding, Nele Cosemans, Koenraad Devriendt, Jan Deprest, Joris Vermeesch
Pagina's: 654 - 663 - Consensus document on the implementation of next generation sequencing in the genetic diagnosis of hereditary cancer(2018)
Auteurs: Gert Matthijs, Erika Souche
Pagina's: 80 - 80 - The odyssey of MAGT1: from magnesium channel back to N-glycosylation?(2017)
Auteurs: Eline Blommaert, Romain Peanne, Christophe Verstegen, Valerie Race, Erika Souche, Liesbeth Keldermans, Daisy Rymen, Jaak Jaeken, Gert Matthijs
Pagina's: 1216 - 1216