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Number of items: 3.

Journal Article

Basmanav, F. Buket, Cesarato, Nicole, Kumar, Sheetal ORCID: 0000-0002-5240-079X, Borisov, Oleg, Kokordelis, Pavlos, Ralser, Damian J., Wehner, Maria, Axt, Daisy, Xiong, Xing ORCID: 0000-0001-5728-150X, Thiele, Holger, Dolgin, Vadim, Gossmann, Yasmina, Fricker, Nadine, Dewenter, Malin Katharina, Weller, Karsten, Suri, Mohnish ORCID: 0000-0001-9037-701X, Reichenbach, Herbert, Oji, Vinzenz, Addor, Marie-Claude, Ramirez, Karla, Stewart, Helen, Bartels, Natalie Garcia, Weibel, Lisa, Wagner, Nicola, George, Susannah, Kilic, Arzu, Tantcheva-Poor, Iliana, Stewart, Alison, Dikow, Nicola, Blaumeiser, Bettina ORCID: 0000-0001-9993-7319, Medvecz, Marta, Blume-Peytavi, Ulrike, Farrant, Paul, Grimalt, Ramon, Bertok, Sara, Bradley, Lisa, Eskin-Schwartz, Marina, Birk, Ohad Samuel, Bygum, Anette ORCID: 0000-0002-3004-0180, Simon, Michel ORCID: 0000-0003-3655-6329, Krawitz, Peter, Fischer, Christine, Hamm, Henning, Fritz, Gunter and Betz, Regina C. (2022). Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals. JAMA Dermatol., 158 (11). S. 1245 - 1254. CHICAGO: AMER MEDICAL ASSOC. ISSN 2168-6084

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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