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Number of items: 3.

Richter, Susan; Gieldon, Laura; Pang, Ying; Peitzsch, Mirko; Huynh, Thanh; Leton, Rocio; Viana, Bruna; Ercolino, Tonino; Mangelis, Anastasios; Rapizzi, Elena; Menschikowski, Mario; Aust, Daniela; Kroiss, Matthias; Beuschlein, Felix; Gudziol, Volker; Timmers, Henri Jlm; Lenders, Jacques; Mannelli, Massimo; Cascon, Alberto; Pacak, Karel; Robledo, Mercedes; Eisenhofer, Graeme; Klink, Barbara (2019). Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma. Genetics in Medicine, 21(3):705-717.

Pamporaki, Christina; Hamplova, Barbora; Peitzsch, Mirko; Prejbisz, Aleksander; Beuschlein, Felix; Timmers, Henri J L M; Fassnacht, Martin; Klink, Barbara; Lodish, Maya; Stratakis, Constantine A; Huebner, Angela; Fliedner, Stephanie; Robledo, Mercedes; Sinnott, Richard O; Januszewicz, Andrzej; Pacak, Karel; Eisenhofer, Graeme (2017). Characteristics of Pediatric vs Adult Pheochromocytomas and Paragangliomas. Journal of Clinical Endocrinology & Metabolism, 102(4):1122-1132.

Di Donato, Nataliya; Neuhann, Teresa; Kahlert, Anne-Karin; Klink, Barbara; Hackmann, Karl; Neuhann, Irmingard; Novotna, Barbora; Schallner, Jens; Krause, Claudia; Glass, Ian A; Parnell, Shawn E; Benet-Pages, Anna; Nissen, Anke M; Berger, Wolfgang; Altmüller, Janine; Thiele, Holger; Weber, Bernhard H F; Schrock, Evelin; Dobyns, William B; Bier, Andrea; Rump, Andreas (2016). Mutations inEXOSC2are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt. Journal of Medical Genetics, 53(6):419-425.

This list was generated on Wed Jun 19 16:59:45 2019 CEST.