Author(s): A. Rüfer, J. P. Howell, A. P. Lange, R. Yamamoto, J. Heuscher, M. Gregor, W. A. Wuillemin
Hereditary hyperferritinemia-cataract syndrome (HHCS) presenting with iron deficiency anemia associated with a new mutation in the iron responsive element of the L ferritin gene in a swiss family.
Published: European Journal of Haematology Abstrakt unter Eur J Haematol. 2011 Mar 15. doi: 10.1111/j.1600-0609.2011.01607.x.
Author(s): N. Jones, M. Nielsen, M.C. Joerink-van de Beld, S. Vogt, C.M. Tops, H.F.A. Vasen, F.J. Hes, S. Aretz, J. R. Sampson
MUTYH-associated polyposis
Published: In: Rodriguez-Bigas MA, Cutait R, Lynch PM, Tomlinson I, Vasen HF (eds): Hereditary Colorectal Cancer. Springer Verlag, 2010, 349-364.
Author(s): Hui Liu, Loubna El Zein, Martin Kruse, Romain Guinamard, Alf Beckmann, André Bozio, Güven Kurtbay, André Mégarbané, Iris Ohmert, Gérard Blaysat, Elisabeth Villain, Olaf Pongs, and Patrice Bouvagnet
Gain-of-Function Mutations in TRPM4 Cause Autosomal Dominant Isolated Cardiac Conduction Disease.
Author(s): Martin Kruse, Eric Schulze-Bahr, Valerie Corfield, Alf Beckmann, Birgit Stallmeyer, Güven Kurtbay, Iris Ohmert, Ellen Schulze-Bahr, Paul Brink and Olaf Pongs
Impaired endocytosis of the ion channel TRPM4 is associated with human progressive familial heart block type I
Published: J Clin Invest. 2009 September 1; 119(9): 27372744. Published online 2009 August 24. doi: 10.1172/JCI38292;
