Fachrepositorium Lebenswissenschaften

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Automatized detection of uniparental disomies in a large cohort

2024 . Moch, Johanna | Radtke, Maximilian | Liehr, Thomas | Eggermann, Thomas | Gilissen, Christian | Pfundt, Rolph | Astuti, Galuh | Hentschel, Julia | Schumann, Isabell

Polygenic risk scores indicate extreme ages at onset of breast cancer in female BRCA1/2 pathogenic variant carriers

Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathy

2021 . Lieberwirth, Johann Kaspar | Joset, Pascal | Heinze, Anja | Hentschel, Julia | Stein, Anja | Iannaccone, Antonella | Steindl, Katharina | Kuechler, Alma | Abou Jamra, Rami

In cis TP53 and RAD51C pathogenic variants may predispose to sebaceous gland carcinomas

2020 . Le Duc, Diana | Hentschel, Julia | Neuser, Sonja | Stiller, Mathias | Meier, Carolin | Jäger, Elisabeth | Abou Jamra, Rami | Platzer, Konrad | Monecke, Astrid | Ziemer, Mirjana | Markovic, Aleksander | Bläker, Hendrik | Lemke, Johannes