Autosomal dominant optic atrophy: A novel treatment for OPA1 splice defects using U1 snRNA adaption

por Christoph Jüschke, Thomas Klopstock, Claudia B. Catarino, Marta Owczarek-Lipska, Bernd Wissinger, John Neidhardt
Publicado 2021

A frameshift mutation in the cubilin gene (CUBN) in Border Collies with Imerslund-Gräsbeck syndrome (selective cobalamin malabsorption).

por Marta Owczarek-Lipska, Vidhya Jagannathan, Cord Drögemüller, Sabina Lutz, Barbara Glanemann, Tosso Leeb, Peter H Kook
Publicado 2013

A COL11A2 mutation in Labrador retrievers with mild disproportionate dwarfism.

por Mirjam Frischknecht, Helena Niehof-Oellers, Vidhya Jagannathan, Marta Owczarek-Lipska, Cord Drögemüller, Elisabeth Dietschi, Gaudenz Dolf, Bernd Tellhelm, Johann Lang, Katriina Tiira, Hannes Lohi, Tosso Leeb
Publicado 2013