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Zeitschriftenartikel
Haimel, Matthias; Pazmandi, Julia; Heredia, Raul Jimenez; Dmytrus, Jasmin; Bal, Sevgi Koestel; Zoghi, Samaneh; Daele, Paul van; Briggs, Tracy A.; Wouters, Carine; Bader-Meunier, Brigitte; Aeschlimann, Florence A.; Caorsi, Roberta; Eleftheriou, Despina; Hoppenreijs, Esther; Salzer, Elisabeth; Bakhtiar, Shahrzad; Derfalvi, Beata; Saettini, Francesco; Kusters, Maaike A. A.; Elfeky, Reem; Truck, Johannes; Riviere, Jacques G.; Burg, Mirjam van der; Gattorno, Marco; Seidel, Markus G.; Burns, Siobhan; Warnatz, Klaus; Hauck, Fabian; Brogan, Paul; Gilmour, Kimberly C.; Schuetz, Catharina; Simon, Anna; Bock, Christoph; Hambleton, Sophie; Vries, Esther de; Robinson, Peter N.; Gijn, Marielle van und Boztug, Kaan
(2022):
Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity.
In: Journal of Allergy and Clinical Immunology, Bd. 149, Nr. 1: S. 369-378
Duncan, Christopher J. A.; Thompson, Benjamin J.; Chen, Rui; Rice, Gillian; Gothe, Florian; Young, Dan F.; Lovell, Simon C.; Shuttleworth, Victoria G.; Brocklebank, Vicky; Corner, Bronte; Skelton, Andrew J.; Bondet, Vincent; Coxhead, Jonathan; Duffy, Darragh; Fourrage, Cecile; Livingston, John H.; Pavaine, Julija; Cheesman, Edmund; Bitetti, Stephania; Grainger, Angela; Acres, Meghan; Innes, Barbara A.; Mikulasova, Aneta; Sun, Ruyue; Hussain, Rafiqul; Wright, Ronnie; Wynn, Robert; Zarhrate, Mohammed; Zeef, Leo A. H.; Wood, Katrina; Hughes, Stephen M.; Harris, Claire L.; Engelhardt, Karin R.; Crow, Yanick J.; Randall, Richard E.; Kavanagh, David; Hambleton, Sophie und Briggs, Tracy A.
(2019):
Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2.
In: Science Immunology, Bd. 4, Nr. 42, eaav7501