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Basmanav, F. B., Cau, L., Tafazzoli, A., Mechin, M., Wolf, S., Romano, M. T., Valentin, F., Wiegmann, H., Huchenq, A., Kandil, R., Bartels, N. Garcia, Kilic, A., George, S., Ralser, D. J., Bergner, S., Ferguson, D. J., Oprisoreanu, A., Wehner, M., Thiele, H., Altmueller, J., Nuernberg, P., Swan, D., Houniet, D., Buechner, A., Weibel, L., Wagner, N., Grimalt, R., Bygum, A., Serre, G., Blume-Peytavi, U., Sprecher, E., Schoch, S., Oji, V., Hamm, H., Farrant, P., Simon, M. and Betz, R. C. (2017). Mutations in three genes encoding proteins involved in hair shaft formation cause uncombable hair syndrome. Exp. Dermatol., 26 (3). S. E48 - 1. HOBOKEN: WILEY. ISSN 1600-0625
Basmanav, F. U., Cau, L., Tafazzoli, A., Mechin, M., Wolf, S., Romano, M., Valentin, F., Wiegmann, H., Huchenq, A., Bartels, N. Garcia, Kilic, A., George, S., Ralser, D. J., Ferguson, D. J., Thiele, H., Altmueller, J., Nuernberg, P., Buchner, A., Weibel, L., Wagner, N., Grimalt, R., Bygum, A., Serre, G., Blume-Peytavi, U., Sprecher, E., Oji, V., Hamm, H., Farrant, P., Simon, M. and Betz, R. C. (2018). Mutations in three genes encoding proteins involved in hair shaft formation cause uncombable hair syndrome. Eur. J. Hum. Genet., 26. S. 45 - 47. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438
Cesarato, N., Malki, L., Sarig, O., Mohamad, J., Canter, T., Assaf, S., Pavlovsky, M., Vodo, D., Anis, Y., Bihari, O., Malovitski, K., Gat, A., Thiele, H., White, B. E. Perez, Samuelov, L., Nanda, A., Paller, A. S., Betz, R. C. and Sprecher, E. (2020). Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis. Eur. J. Hum. Genet., 28 (SUPPL 1). S. 233 - 235. LONDON: SPRINGERNATURE. ISSN 1476-5438
Ralser, D. J., Lestringant, G. G., Du-Thanh, A., Kokordelis, P., Fischer, J., Basmanav, F. B. Uenalan, Wolf, S., Thiele, H., Altmueller, J., Nuernberg, P., Oji, V., Fritz, G., Frank, J. and Betz, R. C. (2017). Functional implications of novel ADAM10 mutations in reticulate acropigmentation of Kitamura. Br. J. Dermatol., 177 (6). S. E340 - 4. HOBOKEN: WILEY. ISSN 1365-2133