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Publications

featured publications

  • UV-sensitive syndrome: Whole exome sequencing identified a nonsense mutation in the gene UVSSA in two consanguineous pedigrees from Pakistan.

    Journal of dermatological science

    Authors: Ambreen Ijaz, Sabrina Wolf, Safur Rehman Mandukhail, Sulman Basit, Regina C Betz, Abdul Wali

  • [Not Available].

    Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG

    Authors: Matthias A Hermasch, Michael P Schön, Regina C Betz, Jorge Frank

  • Two females with hair loss.

    Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG

    Authors: Matthias A Hermasch, Michael P Schön, Regina C Betz, Jorge Frank

  • Tracking the brain in myotonic dystrophies: A 5-year longitudinal follow-up study.

    PloS one

    Authors: Carla Gliem, Martina Minnerop, Sandra Roeske, Hanna Gärtner, Jan-Christoph Schoene-Bake, Sandra Adler, Juri-Alexander Witt, Felix Hoffstaedter, Christiane Schneider-Gold, Regina C Betz, Christoph Helmstaedter, Marc Tittgemeyer, Katrin Amunts, Thomas Klockgether, Bernd Weber, Cornelia Kornblum

  • Variant in Central Centrifugal Cicatricial Alopecia.

    The New England journal of medicine

    Authors: Liron Malki, Ofer Sarig, Maria-Teresa Romano, Marie-Claire Méchin, Alon Peled, Mor Pavlovsky, Emily Warshauer, Liat Samuelov, Laura Uwakwe, Valeria Briskin, Janan Mohamad, Andrea Gat, Ofer Isakov, Tom Rabinowitz, Noam Shomron, Noam Adir, Michel Simon, Amy McMichael, Ncoza C Dlova, Regina C Betz, Eli Sprecher