Items where Author is "Sass, Jörn Oliver"

2011

Grünert, Sarah Catharina and Fowler, Brian and Superti-Furga, Andrea and Sass, Jörn Oliver and Schwab, Karl Otfried. (2011) Hyperpyrexia resulting in encephalopathy in a 14-month-old patient with cblC disease. Brain & development, Vol. 33, H. 5. pp. 432-436.

2009

van Kuilenburg, André B. P. and Meijer, Judith and Mul, Adri N. P. M. and Hennekam, Raoul C. M. and Hoovers, Jan M. N. and de Die-Smulders, Christine E. M. and Weber, Peter and Mori, Andrea Capone and Bierau, Jörgen and Fowler, Brian and Macke, Klaus and Sass, Jörn Oliver and Meinsma, Rutger and Hennermann, Julia B. and Miny, Peter and Zoetekouw, Lida and Vijzelaar, Raymon and Nicolai, Joost and Ylstra, Bauke and Rubio-Gozalbo, M. Estela. (2009) Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3). Human genetics, Vol. 125, H. 5-6. pp. 581-590.

2005

Huemer, Martina and Simma, Burkhard and Fowler, Brian and Suormala, Terttu and Bodamer, Olaf A. and Sass, Jörn Oliver. (2005) Prenatal and postnatal treatment in cobalamin C defect. The Journal of pediatrics, Vol. 147, H. 4. pp. 469-472.