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Number of items: 4.

Garbade, Sven F; Shen, Nan; Himmelreich, Nastassja; Haas, Dorothea; Trefz, Friedrich K; Hoffmann, Georg F; Burgard, Peter; Blau, Nenad (2019). Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria. Genetics in Medicine, 21(3):580-590.

Anikster, Yair; Haack, Tobias B; Vilboux, Thierry; Pode-Shakked, Ben; Thöny, Beat; Shen, Nan; Guarani, Virginia; Meissner, Thomas; Mayatepek, Ertan; Trefz, Friedrich K; Marek-Yagel, Dina; Martinez, Aurora; Huttlin, Edward L; Paulo, Joao A; Berutti, Riccardo; Benoist, Jean-François; Imbard, Apolline; Dorboz, Imen; Heimer, Gali; Landau, Yuval; Ziv-Strasser, Limor; Malicdan, May Christine V; Gemperle-Britschgi, Corinne; Cremer, Kirsten; Engels, Hartmut; Meili, David; Keller, Irene; Bruggmann, Rémy; Strom, Tim M; Meitinger, Thomas; Mullikin, James C; Schwartz, Gerard; Ben-Zeev, Bruria; Gahl, William A; Harper, J Wade; Blau, Nenad; Hoffmann, Georg F; Prokisch, Holger; Opladen, Thomas; Schiff, Manuel (2017). Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability. American Journal of Human Genetics, 100(2):257-266.

Trefz, Friedrich K; Scheible, Dagmar; Frauendienst-Egger, Georg; Huemer, Martina; Suomala, Terttu; Fowler, Brian; Haas, Dorothea; Baumgartner, Matthias R (2016). Successful intrauterine treatment of a patient with cobalamin C defect. Molecular Genetics and Metabolism Reports, 6:55-59.

Giżewska, Maria; MacDonald, Anita; Bélanger-Quintana, Amaya; Burlina, Alberto; Cleary, Maureen; Coşkun, Turgay; Feillet, François; Muntau, Ania C; Trefz, Friedrich K; van Spronsen, Francjan J; Blau, Nenad (2016). Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results. European Journal of Pediatrics, 175(2):261-272.

This list was generated on Mon May 20 20:36:10 2019 CEST.