Items where Author is "Betz, Regina C."
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Hotz, Alrun and Oji, Vmzenz and Bourrat, Emmanuelle and Jonca, Nathalie and Mazereeuw-Hautier, Juliette and Betz, Regina C. and Blume-Peytavi, Ulrike and Stieler, Karola and Morice-Picard, Fanny and Schoenbuchner, Ines and Markus, Susanne and Schlipf, Nina and Fischer, Judith (2016) Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis. ACTA DERMATO-VENEREOLOGICA, 96 (4). pp. 473-478. ISSN 0001-5555, 1651-2057
Basmanav, F. Buket and Oprisoreanu, Ana-Maria and Pasternack, Sandra M. and Thiele, Holger and Fritz, Guenter and Wenzel, Joerg and Groesser, Leopold and Wehner, Maria and Wolf, Sabrina and Fagerberg, Christina and Bygum, Anette and Altmueller, Janine and Ruetten, Arno and Parmentier, Laurent and El Shabrawi-Caelen, Laila and Hafner, Christian and Nuernberg, Peter and Kruse, Roland and Schoch, Susanne and Hanneken, Sandra and Betz, Regina C. (2014) Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease. AMERICAN JOURNAL OF HUMAN GENETICS, 94 (1). pp. 135-143. ISSN 0002-9297, 1537-6605
Refke, M. and Pasternack, S. M. and Fiebig, B. and Wenzel, S. and Ishorst, N. and Ludwig, M. and Noethen, M. M. and Seyger, M. M. and Hamel, B. C. and Betz, Regina C. (2011) Functional analysis of splice site mutations in the human hairless (HR) gene using a minigene assay. BRITISH JOURNAL OF DERMATOLOGY, 165 (5). pp. 1127-1132. ISSN 0007-0963
Mauerer, Andreas and Betz, Regina C. and Pasternack, Sandra M. and Landthaler, Michael and Hafner, Christian (2010) Generalized Solar Lentigines in a Patient with a History of Radon Exposure. DERMATOLOGY, 221 (3). pp. 206-210. ISSN 1018-8665, 1421-9832
Reutter, Heiko and Becker, Tim and Ludwig, Michael and Schaefer, Niklas and Detlefsen, Birte and Beaudoin, Sylvie and Fisch, Margit and Ebert, Anne-Karoline and Roesch, Wolfgang and Noethen, Markus M. and Boemers, Thomas M. and Betz, Regina C. (2006) Family-based association study of the MTHFR polymorphism C677T in the bladder-exstrophy-epispadias-complex. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 140A (22). pp. 2506-2509. ISSN 1552-4825
