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Journal Article

Basmanav, F. Buket U., Cau, Laura ORCID: 0000-0002-2480-536X, Tafazzoli, Aylar, Mechin, Marie-Claire, Wolf, Sabrina, Romano, Maria Teresa, Valentin, Frederic, Wiegmann, Henning, Huchenq, Anne, Kandil, Rima, Bartels, Natalie Garcia, Kilic, Arzu, George, Susannah, Ralser, Damian J., Bergner, Stefan, Ferguson, David J. P., Oprisoreanu, Ana-Maria ORCID: 0000-0002-9409-0830, Wehner, Maria, Thiele, Holger, Altmueller, Janine, Nuerenberg, Peter, Swan, Daniel ORCID: 0000-0001-8978-8129, Houniet, Darren, Buechner, Aline, Weibel, Lisa, Wagner, Nicola, Grimalt, Ramon, Bygum, Anette ORCID: 0000-0002-3004-0180, Serre, Guy, Blume-Peytavi, Ulrike, Sprecher, Eli, Schoch, Susanne, Oji, Vinzenz ORCID: 0000-0003-1380-4828, Hamm, Henning, Farrant, Paul, Simon, Michel ORCID: 0000-0003-3655-6329 and Betz, Regina C. (2016). Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome. Am. J. Hum. Genet., 99 (6). S. 1292 - 1305. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Basmanav, F. Buket, Fritz, Guenter ORCID: 0000-0002-4571-8812, Lestringant, Gilles G., Pachat, Divya, Hoffjan, Sabine, Fischer, Johannes ORCID: 0000-0002-2079-1845, Wehner, Maria, Wolf, Sabrina, Thiele, Holger, Altmueller, Janine, Pulimood, Susanne A., Ruetten, Arno, Kruse, Roland, Hanneken, Sandra, Frank, Jorge, Danda, Sumita, Bygum, Anette ORCID: 0000-0002-3004-0180 and Betz, Regina C. (2015). Pathogenicity of POFUT1 in Dowling-Degos Disease: Additional Mutations and Clinical Overlap with Reticulate Acropigmentation of Kitamura. J. Invest. Dermatol., 135 (2). S. 615 - 619. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1523-1747

Basmanav, F. Buket, Oprisoreanu, Ana-Maria ORCID: 0000-0002-9409-0830, Pasternack, Sandra M., Thiele, Holger, Fritz, Guenter ORCID: 0000-0002-4571-8812, Wenzel, Joerg, Groesser, Leopold, Wehner, Maria, Wolf, Sabrina, Fagerberg, Christina, Bygum, Anette ORCID: 0000-0002-3004-0180, Altmueller, Janine, Ruetten, Arno, Parmentier, Laurent, El Shabrawi-Caelen, Laila, Hafner, Christian, Nuernberg, Peter, Kruse, Roland, Schoch, Susanne, Hanneken, Sandra and Betz, Regina C. (2014). Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease. Am. J. Hum. Genet., 94 (1). S. 135 - 144. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

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