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Number of items: 3.

Sass, Jörn Oliver; Gemperle-Britschgi, Corinne; Tarailo-Graovac, Maja; Patel, Nisha; Walter, Melanie; Jordanova, Albena; Alfadhel, Majid; Barić, Ivo; Çoker, Mahmut; Damli-Huber, Aynur; Faqeih, Eissa Ali; García Segarra, Nuria; Geraghty, Michael T; Jåtun, Bjørn Magne; Kalkan Uçar, Sema; Kriewitz, Merten; Rauchenzauner, Markus; Bilić, Karmen; Tournev, Ivailo; Till, Claudia; Sayson, Bryan; Beumer, Daniel; Ye, Cynthia Xin; Zhang, Lin-Hua; Vallance, Hilary; Alkuraya, Fowzan S; van Karnebeek, Clara D M (2016). Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families. Molecular Genetics and Metabolism, 119(1-2):44-49.

Jamiolkowski, Dagmar; Kölker, Stefan; Glahn, Esther M; Barić, Ivo; Zeman, Jiri; Baumgartner, Matthias R; Mühlhausen, Chris; Garcia-Cazorla, Angels; Gleich, Florian; Haege, Gisela; Burgard, Peter (2016). Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders. Journal of Inherited Metabolic Disease, 39(2):231-241.

Kevelam, Sietske H; Bugiani, Marianna; Salomons, Gajja S; Feigenbaum, Annette; Blaser, Susan; Prasad, Chitra; Häberle, Johannes; Barić, Ivo; Bakker, Ingrid M C; Postma, Nienke L; Kanhai, Warsha A; Wolf, Nicole I; Abbink, Truus E M; Waisfisz, Quinten; Heutink, Peter; van der Knaap, Marjo S (2013). Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy. Brain : a journal of neurology, 136(5):1534-1543.

This list was generated on Thu Jan 17 21:12:14 2019 CET.