STX1B-related epilepsy in a 24-month-old female infant

by Katharina Burghardt, Naomi Baba, Isolde Schreyer, Irene Graneß, Christian A. Hübner
Published 2021-01-01

Parental origin of deletions and duplications – about the necessity to check for cryptic inversions

by Thomas Liehr, Isolde Schreyer, Alma Kuechler, Emmanouil Manolakos, Sylke Singer, Andreas Dufke, Kathleen Wilhelm, Tereza Jančušková, Radek Čmejla, Moneeb A. K. Othman, Ahmed H. Al-Rikabi, Kristin Mrasek, Monika Ziegler, Stefanie Kankel, Katharina Kreskowski, Anja Weise
Published 2018-03-01