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Number of items: 4.

Bader, Ingrid; Decker, E; Mayr, J A; Lunzer, V; Koch, J; Boltshauser, E; Sperl, W; Pietsch, P; Ertl-Wagner, B; Bolz, H; Bergmann, C; Rittinger, O (2016). MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum. European Journal of Medical Genetics, 59(8):386-391.

Huemer, M; Bürer, C; Ješina, P; Kožich, V; Landolt, M A; Suormala, T; Fowler, B; Augoustides-Savvopoulou, P; Blair, E; Brennerova, K; Broomfield, A; De Meirleir, L; Gökcay, G; Hennermann, J; Jardine, P; Koch, J; Lorenzl, S; Lotz-Havla, A S; Noss, J; Parini, R; Peters, H; Plecko, B; Ramos, F J; Schlune, A; Tsiakas, K; Zerjav Tansek, M; Baumgartner, M R (2015). Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data. Journal of Inherited Metabolic Disease, 38(5):957-967.

Naumann, A; Söderhäll, C; Fölster-Holst, R; Baurecht, H; Harde, V; Müller-Wehling, K; Rodríguez, E; Ruether, A; Franke, A; Wagenpfeil, S; Novak, N; Mempel, M; Kalali, B N; Allgaeuer, M; Koch, J; Gerhard, M; Melén, E; Wahlgren, C F; Kull, I; Stahl, C; Pershagen, G; Lauener, R; Riedler, J; Doekes, G; Scheynius, A; Illig, T; von Mutius, E; Schreiber, S; Kere, J; Kabesch, M; Weidinger, S (2011). A comprehensive analysis of the COL29A1 gene does not support a role in eczema. Journal of Allergy and Clinical Immunology, 127(5):1187-1194.e7.

Rauscher, C; Poretti, A; Neuhann, T M; Forstner, R; Hahn, G; Koch, J; Tinschert, S; Boltshauser, E (2009). Pontine tegmental cap dysplasia: the severe end of the clinical spectrum. Neuropediatrics, 40(1):43-46.

This list was generated on Fri Apr 19 09:43:10 2019 CEST.