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Genetic variants in patients with multiple arterial aneurysms

2024 . Körfer, Daniel | Grond-Ginsbach, Caspar | Peters, Andreas S. | Burkart, Sebastian | Hempel, Maja | Schaaf, Christian P. | Böckler, Dittmar | Erhart, Philipp

Improving sudden cardiac death risk stratification in hypertrophic cardiomyopathy using established clinical variables and genetic information

2023 . Amr, Ali | Koelemen, Jan | Reich, Christoph | Sedaghat-Hamedani, Farbod | Kayvanpour, Elham | Haas, Jan | Frese, Karen | Lehmann, David | Katus, Hugo A. | Frey, Norbert | Meder, Benjamin

TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19

Functional classification of RUNX1 variants in familial platelet disorder with associated myeloid malignancies

2021 . Decker, Melanie | Lammens, Tim | Ferster, Alina | Erlacher, Miriam | Yoshimi, Ayami | Niemeyer, Charlotte | Ernst, Martijn P. T. | Raaijmakers, Marc H. G. P. | Duployez, Nicolas | Flaum, Andreas | Steinemann, Doris | Schlegelberger, Brigitte | Illig, Thomas | Ripperger, Tim

Exome first approach to reduce diagnostic costs and time – retrospective analysis of 111 individuals with rare neurodevelopmental disorders

2021 . Klau, Julia | Abou Jamra, Rami | Radtke, Maximilian | Oppermann, Henry | Lemke, Johannes | Beblo, Skadi | Popp, Bernt

Die Rechte zukünftiger Kinder im Kontext pränataler Diagnostik

2021 . , Dagmar | Düwell, Marcus

The importance of genetic testing for dystonia patients and translational research

2021 . Pozojevic, Jelena | Beetz, Christian | Westenberger, Ana

Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain

First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery

Genetic aspects of congenital nephrotic syndrome: a consensus statement from the ERKNet–ESPN inherited glomerulopathy working group

2020 . Lipska-Ziętkiewicz, Beata S. | Ozaltin, Fatih | Hölttä, Tuula | Bockenhauer, Detlef | Bérody, Sandra | Levtchenko, Elena | Vivarelli, Marina | Webb, Hazel | Haffner, Dieter | Schaefer, Franz | Boyer, Olivia