Diagnostic pitfalls in vitamin B6‐dependent epilepsy caused by mutations in the PLPBP gene

by Kristian Vestergaard Jensen, Maria Frid, Tommy Stödberg, Michela Barbaro, Anna Wedell, Mette Christensen, Mads Bak, Jakob Ek, Camilla Gøbel Madsen, Niklas Darin, Sabine Grønborg
Published 2019-11-01

Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition.

by Karin A W Wadt, Lauren G Aoude, Lotte Krogh, Lone Sunde, Anders Bojesen, Karen Grønskov, Nine Wartacz, Jakob Ek, Morten Tolstrup-Andersen, Mette Klarskov-Andersen, Åke Borg, Steffen Heegaard, Jens F Kiilgaard, Thomas V O Hansen, Kerenaftali Klein, Göran Jönsson, Krzysztof T Drzewiecki, Morten Dunø, Nicholas K Hayward, Anne-Marie Gerdes
Published 2015-01-01