A mutation in the c-Fos gene associated with congenital generalized lipodystrophy

by Knebel, Birgit, Kotzka, Jorg, Lehr, Stefan, Hartwig, Sonja, Avci, Haluk, Jacob, Sylvia, Nitzgen, Ulrike, Schiller, Martina, März, Winfried, Hoffmann, Michael M, Seemanova, Eva, Haas, Jutta, Muller-Wieland, Dirk
Published 2013

DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects

by Kessler, Kristin, Wunderlich, Ina, Uebe, Steffen, Falk, Nathalie S., Gießl, Andreas, Helmut Brandstätter, Johann, Popp, Bernt, Klinger, Patricia, Ekici, Arif B., Sticht, Heinrich, Dörr, Helmuth-Günther, Reis, André, Roepman, Ronald, Seemanová, Eva, Thiel, Christian T.
Published 2015

The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?

by Seemanova, Eva, Varon, Raymonda, Vejvalka, Jan, Jarolim, Petr, Seeman, Pavel, Chrzanowska, Krystyna H., Digweed, Martin, Resnick, Igor, Kremensky, Ivo, Saar, Kathrin, Hoffmann, Katrin, Dutrannoy, Véronique, Karbasiyan, Mohsen, Ghani, Mehdi, Barić, Ivo, Tekin, Mustafa, Kovacs, Peter, Krawczak, Michael, Reis, André, Sperling, Karl, Nothnagel, Michael
Published 2016