@book{UBHD-69259298, author={Semino, Francesca}, organization={Universit{\"a}t Heidelberg}, title={Clinical and electrophysiological characterisation of a new combined SCN5A and GPD1L variant in a family affected by Brugada syndrome}, address={Heidelberg}, year={2023}, pages={116 Bl{\"a}tter}, language={eng}, school={Dissertation, Ruprecht-Karls-Universit{\"a}t Heidelberg, 2024}, library={UB [Signatur: 2024 U 842]}, } @article{UBHD-69112833, author={Semino, Francesca and Schr{\"o}ter, Julian and Willemsen, Marjolein H. and Bast, Thomas and Biskup, Saskia and Beck-Woedl, Stefanie and Brennenstuhl, Heiko and Schaaf, Christian P. and K{\"o}lker, Stefan and Hoffmann, Georg F. and Haack, Tobias and Syrbe, Steffen}, title={Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder}, year={2021}, pages={1094-1100}, language={eng}, issn={1098-1004}, volume={42}, number={9}, note={Gesehen am 15.08.2023}, journal={Human mutation}, doi={10.1002/humu.24245}, url={https://doi.org/10.1002/humu.24245}, library={UB}, } @article{UBHD-69162912, author={Semino, Francesca and Darche, Fabrice Fernand and Bruehl, Claus and Koenen, Michael and Skladny, Heyko and Katus, Hugo and Frey, Norbert and Draguhn, Andreas and Schweizer, Patrick Alexander}, title={GPD1L-A306del modifies sodium current in a family carrying the dysfunctional SCN5A-G1661R mutation associated with Brugada syndrome}, year={2024}, pages={229-242}, language={eng}, issn={1432-2013}, volume={476}, number={2 vom: Dez.}, note={Online ver{\"o}ffentlicht: 1 December 2023 ; Gesehen am 18.01.2024}, journal={Pfl{\"u}gers Archiv}, doi={10.1007/s00424-023-02882-0}, }