Items where Author is "Hennermann, Julia B."

2010

Gailus, Susann and Suormala, Terttu and Malerczyk-Aktas, Ayse Gül and Toliat, Mohammad R. and Wittkampf, Tanja and Stucki, Martin and Nürnberg, Peter and Fowler, Brian and Hennermann, Julia B. and Rutsch, Frank. (2010) A novel mutation in LMBRD1 causes the cblF defect of vitamin B(12) metabolism in a Turkish patient. Journal of Inherited Metabolic Disease, Vol. 33, no. 1. pp. 17-24.

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

Zavadáková, Petra and Fowler, Brian and Suormala, Terttu and Novotna, Zorka and Mueller, Peter and Hennermann, Julia B. and Zeman, Jirí and Vilaseca, M. Antonia and Vilarinho, Laura and Gutsche, Sven and Wilichowski, Ekkehard and Horneff, Gerd and Kozich, Viktor. (2005) CblE type of homocystinuria due to methionine synthase reductase deficiency : functional correction by minigene expression. Human mutation, Vol. 25, no. 3. pp. 239-247.