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Anzahl der Publikationen: 2
Zeitschriftenartikel
Richter, Susan; Gieldon, Laura; Pang, Ying; Peitzsch, Mirko; Thanh, Huynh; Leton, Rocio; Viana, Bruna; Ercolino, Tonino; Mangelis, Anastasios; Rapizzi, Elena; Menschikowski, Mario; Aust, Daniela; Kroiss, Matthias; Beuschlein, Felix; Gudziol, Volker; Timmers, Henri J. L. M.; Lenders, Jacques; Mannelli, Massimo; Cascon, Alberto; Pacak, Karel; Robledo, Mercedes; Eisenhofer, Graeme und Klink, Barbara
(2019):
Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma.
In: Genetics in Medicine, Bd. 21, Nr. 3: S. 705-717
Curras-Freixes, Maria; Pineiro-Yanez, Elena; Montero-Conde, Cristina; Apellaniz-Ruiz, Maria; Calsina, Bruna; Mancikova, Veronika; Remacha, Laura; Richter, Susan; Ercolino, Tonino; Rogowski-Lehmann, Natalie; Deutschbein, Timo; Calatayud, Maria; Guadalix, Sonsoles; Alvarez-Escola, Cristina; Lamas, Cristina; Aller, Javier; Sastre-Marcos, Julia; Lazaro, Conxi; Galofre, Juan C.; Patino-Garcia, Ana; Meoro-Aviles, Amparo; Balmana-Gelpi, Judith; Miguel-Novoa, Paz de; Balbin, Milagros; Matias-Guiu, Xavier; Leton, Rocio; Inglada-Perez, Lucia; Torres-Perez, Rafael; Roldan-Romero, Juan M.; Rodriguez-Antona, Cristina; Fliedner, Stephanie M. J.; Opocher, Giuseppe; Pacak, Karel; Korpershoek, Esther; Krijger, Ronald R. de; Vroonen, Laurent; Mannelli, Massimo; Fassnacht, Martin; Beuschlein, Felix; Eisenhofer, Graeme; Cascon, Alberto; Al-Shahrour, Fatima und Robledo, Mercedes
(2017):
A Targeted Next-Generation Sequencing Assay for Pheochromocytoma and Paraganglioma Diagnostics.
In: Journal of Molecular Diagnostics, Bd. 19, Nr. 4: S. 575-588