A TARP Syndrome Phenotype Is Associated with a Novel Splicing Variant in RBM10

por Owczarek-Lipska, Marta, Markus, Fenja, Bültmann, Eva, Korenke, G. Christoph, Neidhardt, John
Publicado 2022

The Major Ciliary Isoforms of RPGR Build Different Interaction Complexes with INPP5E and RPGRIP1L

por Vössing, Christine, Atigbire, Paul, Eilers, Jannis, Markus, Fenja, Stieger, Knut, Song, Fei, Neidhardt, John
Publicado 2021

A novel missense variant in the EML1 gene associated with bilateral ribbon-like subcortical heterotopia leads to ciliary defects

por Markus, Fenja, Kannengießer, Annika, Näder, Patricia, Atigbire, Paul, Scholten, Alexander, Vössing, Christine, Bültmann, Eva, Korenke, G. Christoph, Owczarek-Lipska, Marta, Neidhardt, John
Publicado 2021

Rare variants in the GABA(A) receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes

por Markus, Fenja, Angelini, Chloé, Trimouille, Aurelien, Rudolf, Gabrielle, Lesca, Gaetan, Goizet, Cyril, Lasseaux, Eulalie, Arveiler, Benoit, van Slegtenhorst, Marjon, Brooks, Alice S., Abou Jamra, Rami, Korenke, Georg‐Christoph, Neidhardt, John, Owczarek‐Lipska, Marta
Publicado 2020