Osteogenesis imperfecta caused by PPIB mutation with severe phenotype and congenital hearing loss

le Rush, Eric T., Caldwell, Kathleen S., Kreikemeier, Rose M., Lutz, Richard E., Esposito, Paul W.
Foilsithe in J Pediatr Genet (2014)

The iron–sulphur cluster in human DNA2 is required for all biochemical activities of DNA2

le Mariotti, Laura, Wild, Sebastian, Brunoldi, Giulia, Piceni, Alessandra, Ceppi, Ilaria, Kummer, Sandra, Lutz, Richard E., Cejka, Petr, Gari, Kerstin
Foilsithe in Commun Biol (2020)

Novel PLP1 Mutations Identified With Next-Generation Sequencing Expand the Spectrum of PLP1-Associated Leukodystrophy Clinical Phenotypes

le Margraf, Rebecca L., Durtschi, Jacob, Krock, Bryan, Newcomb, Tara M., Bonkowsky, Joshua L., Voelkerding, Karl V., Bayrak-Toydemir, Pinar, Lutz, Richard E., Swoboda, Kathryn J.
Foilsithe in Child Neurol Open (2018)

Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/− mice

le Pringsheim, Milka, Mitter, Diana, Schröder, Simone, Warthemann, Rita, Plümacher, Kim, Kluger, Gerhard, Baethmann, Martina, Bast, Thomas, Braun, Sarah, Büttel, Hans‐Martin, Conover, Elizabeth, Courage, Carolina, Datta, Alexandre N., Eger, Angelika, Grebe, Theresa A., Hasse‐Wittmer, Annette, Heruth, Marion, Höft, Karen, Kaindl, Angela M., Karch, Stephanie, Kautzky, Torsten, Korenke, Georg C., Kruse, Bernd, Lutz, Richard E., Omran, Heymut, Patzer, Steffi, Philippi, Heike, Ramsey, Keri, Rating, Tina, Rieß, Angelika, Schimmel, Mareike, Westman, Rachel, Zech, Frank‐Martin, Zirn, Birgit, Ulmke, Pauline A., Sokpor, Godwin, Tuoc, Tran, Leha, Andreas, Staudt, Martin, Brockmann, Knut
Foilsithe in Ann Clin Transl Neurol (2019)