Maintenance: Friday 24 November 2017, 18:00 - Saturday 25 November 18:00
Database maintenance work on the ZORA servers is provided. The service is interrupted for 24 hours. Thank you for your patience.
Dill, P; Wagner, M; Somerville, A; Thöny, B; Blau, N; Weber, P (2012). Child neurology: paroxysmal stiffening, upward gaze, and hypotonia: hallmarks of sepiapterin reductase deficiency. Neurology, 78(5):e29-32.
Dill, P; Schneider, J; Weber, P; Trachsel, D; Tekin, M; Jakobs, C; Thöny, B; Blau, N (2011). Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM). Molecular Genetics and Metabolism, 104(3):362-368.
Dill, P; Poretti, A; Boltshauser, E; Huisman, T A G M (2009). Fetal magnetic resonance imaging in midline malformations of the central nervous system and review of the literature. Journal of Neuroradiology, 36(3):138-146.