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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; ... (2017). Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability. American journal of human genetics, 100(2), pp. 257-266. Cell Press 10.1016/j.ajhg.2017.01.002
Blau, Nenad; Bélanger-Quintana, Amaya; Demirkol, Mübeccel; Feillet, François; Giovannini, Marcello; MacDonald, Anita; Trefz, Friedrich K; van Spronsen, Francjan; Nuoffer, JM; European PKU centers, (2010). Management of phenylketonuria in Europe: survey results from 19 countries. Molecular genetics and metabolism, 99(2), pp. 109-15. Amsterdam: Elsevier 10.1016/j.ymgme.2009.09.005
Tanner, Felix C; van der Loo, Bernd; Shaw, Sidney; Greutert, Helen; Bachschmid, Markus M; Berrozpe, Maria; Rozenberg, Izabela; Blau, Nenad; Siebenmann, Robert; Schmidli, Jürg; Meyer, Peter; Lüscher, Thomas F (2007). Inactivity of nitric oxide synthase gene in the atherosclerotic human carotid artery. Basic research in cardiology, 102(4), pp. 308-317. Heidelberg: Springer-Medizin-Verlag 10.1007/s00395-007-0650-7
