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

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

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

par 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
Publié 2013

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

par 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.
Publié dans Mov Disord (2020)

Next-generation sequencing in X-linked intellectual disability

par 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
Publié dans Eur J Hum Genet (2015)