Next generation sequencing of the clonal IGH rearrangement detects ongoing mutations and interfollicular trafficking in in situ follicular neoplasia

per Kosmidis, Perikles, Bonzheim, Irina, Dufke, Claudia, Colak, Sema, Hentrich, Thomas, Schroeder, Christopher, Bauer, Peter, Adam, Patrick, Fend, Falko
Publicat a PLoS One (2017)

X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity

per Czeschik, Johanna Christina, Bauer, Peter, Buiting, Karin, Dufke, Claudia, Guillén-Navarro, Encarna, Johnson, Diana S, Koehler, Udo, López-González, Vanesa, Lüdecke, Hermann-Josef, Male, Alison, Morrogh, Deborah, Rieß, Angelika, Tzschach, Andreas, Wieczorek, Dagmar, Kuechler, Alma
Publicat 2013

A Gain‐of‐Function Variant in Dopamine D2 Receptor and Progressive Chorea and Dystonia Phenotype

per van der Weijden, Marlous C.M., Rodriguez‐Contreras, Dayana, Delnooz, Cathérine C.S., Robinson, Brooks G., Condon, Alec F., Kielhold, Michelle L., Stormezand, Gilles N., Ma, Kai Yu, Dufke, Claudia, Williams, John T., Neve, Kim A., Tijssen, Marina A.J., Verbeek, Dineke S.
Publicat a Mov Disord (2020)

Next-generation sequencing in X-linked intellectual disability

per Tzschach, Andreas, Grasshoff, Ute, Beck-Woedl, Stefanie, Dufke, Claudia, Bauer, Claudia, Kehrer, Martin, Evers, Christina, Moog, Ute, Oehl-Jaschkowitz, Barbara, Di Donato, Nataliya, Maiwald, Robert, Jung, Christine, Kuechler, Alma, Schulz, Solveig, Meinecke, Peter, Spranger, Stephanie, Kohlhase, Jürgen, Seidel, Jörg, Reif, Silke, Rieger, Manuela, Riess, Angelika, Sturm, Marc, Bickmann, Julia, Schroeder, Christopher, Dufke, Andreas, Riess, Olaf, Bauer, Peter
Publicat a Eur J Hum Genet (2015)