 | Up a level |
2018
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
2017
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
Dick, A., Tantcheva-Poor, I. ., Oji, V., Giehl, K. A., Fischer, J. ., Krieg, P., Schneider, H. and Rauh, M. (2017). Diminished protein-bound -hydroxylated ceramides in the skin of patients with ichthyosis with 12R-lipoxygenase (LOX) or eLOX-3 deficiency. Br. J. Dermatol., 177 (4). S. E119 - 3. HOBOKEN: WILEY. ISSN 1365-2133
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
2014
Egbert, M. R., Fischer, J., Schlipf, N. A., Hennies, H. C., Hausser-Siller, I., Traupe, H. and Oji, V. (2014). Vitamin D status in different forms of ichthyosis in Germany: differences depending on the severity of hyperkeratosis and/or erythema and high prevalence of 25OHD deficiency and hyperparathyreoidism. J. Dtsch. Dermatol. Ges., 12. S. 4 - 6. HOBOKEN: WILEY-BLACKWELL. ISSN 1610-0387