Low‐level mosaicism in tuberous sclerosis complex in four unrelated patients: Comparison of clinical characteristics and diagnostic pathways

por Manzanilla‐Romero, Héctor Hugo, Weis, Denisa, Schnaiter, Simon, Rudnik‐Schöneborn, Sabine
Publicado 2021

Array genotyping as diagnostic approach in medical genetics

por Witsch‐Baumgartner, Martina, Schwaninger, Gunda, Schnaiter, Simon, Kollmann, Franziska, Burkhard, Silja, Gröbner, Rebekka, Mühlegger, Beatrix, Schamschula, Esther, Kirchmeier, Peter, Zschocke, Johannes
Publicado 2022

Teenage-Onset Colorectal Cancers in a Digenic Cancer Predisposition Syndrome Provide Clues for the Interaction between Mismatch Repair and Polymerase δ Proofreading Deficiency in T...

por Schamschula, Esther, Kinzel, Miriam, Wernstedt, Annekatrin, Oberhuber, Klaus, Gottschling, Hendrik, Schnaiter, Simon, Friedrichs, Nicolaus, Merkelbach-Bruse, Sabine, Zschocke, Johannes, Gallon, Richard, Wimmer, Katharina
Publicado 2022

PBRM1 mutations might render a subtype of biliary tract cancers sensitive to drugs targeting the DNA damage repair system

por Zimmer, Kai, Kocher, Florian, Untergasser, Gerold, Kircher, Brigitte, Amann, Arno, Baca, Yasmine, Xiu, Joanne, Korn, W. Micheal, Berger, Martin D., Lenz, Heinz-Josef, Puccini, Alberto, Fontana, Elisa, Shields, Anthony F., Marshall, John L., Hall, Michael, El-Deiry, Wafik S., Hsiehchen, David, Macarulla, Teresa, Tabernero, Josep, Pichler, Renate, Khushman, Moh’d, Manne, Upender, Lou, Emil, Wolf, Dominik, Sokolova, Viktorija, Schnaiter, Simon, Zeimet, Alain G., Gulhati, Pat, Widmann, Gerlig, Seeber, Andreas
Publicado 2023