@article{UBHD-68976660, author={G{\"o}tz, Maren and Schr{\"o}ter, Julian and Dattner, Tal and Brennenstuhl, Heiko and Lenz, Dominic and Opladen, Thomas and H{\"o}rster, Friederike and Okun, J{\"u}rgen G. and Hoffmann, Georg F. and K{\"o}lker, Stefan and Staufner, Christian}, title={Genotypic and phenotypic spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency}, year={2022}, pages={18-25}, language={eng}, issn={1096-7206}, volume={137}, number={1}, note={Online verf{\"u}gbar 11 July 2022, Version des Artikels 19 July 2022 ; Gesehen am 20.10.2022}, journal={Molecular genetics and metabolism}, doi={10.1016/j.ymgme.2022.07.007}, } @article{UBHD-69294322, author={Hammann, Nicole Irene and Lenz, Dominic and Bianzano, Alyssa and Husain, Ralf A. and Forman, Eva and Bernstein, Jonathan A. and Dattner, Tal and Engelen, Marc and Hanson-Kahn, Andrea K. and Isidor, Bertrand and Kotzaeridou, Urania and Tietze, Anna and Trollmann, Regina and Weiß, Claudia and Wolffenbuttel, Bruce H. R. and K{\"o}lker, Stefan and Hoffmann, Georg F. and Crushell, Ellen and Staufner, Christian and Mohr, Alexander and Harting, Inga}, title={MRI in LARS1 deficiency}, subtitle={spectrum, patterns, and correlation with acute neurological deterioration}, year={2024}, pages={1028-1046}, language={eng}, issn={1573-2665}, volume={47}, number={5}, note={Ver{\"o}ffentlicht: 01 July 2024 ; Gesehen am 27.01.2025}, journal={Journal of inherited metabolic disease}, doi={10.1002/jimd.12764}, } @article{UBHD-69272869, author={Peters, Bianca and Dattner, Tal and Schlieben, Lea D. and Sun, Tian and Staufner, Christian and Lenz, Dominic}, title={Disorders of vesicular trafficking presenting with recurrent acute liver failure}, subtitle={NBAS, RINT1, and SCYL1 deficiency}, year={2024}, pages={1-13}, language={eng}, issn={1573-2665}, volume={48}, note={Gesehen am 12.11.2024 ; Online ver{\"o}ffentlicht: 27 January 2024}, journal={Journal of inherited metabolic disease}, doi={10.1002/jimd.12707}, } @article{UBHD-69064164, author={Schr{\"o}ter, Julian and Dattner, Tal and H{\"u}llein, Jennifer and Jayme, Alejandra and Heuveline, Vincent and Hoffmann, Georg F. and K{\"o}lker, Stefan and Lenz, Dominic and Opladen, Thomas and Popp, Bernt and Schaaf, Christian P. and Staufner, Christian and Syrbe, Steffen and Uhrig, Sebastian and H{\"u}bschmann, Daniel and Brennenstuhl, Heiko}, title={aRgus: multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment}, year={2023}, pages={1077-1083}, language={eng}, issn={2001-0370}, volume={21}, note={Gesehen am 11.04.2023}, journal={Computational and structural biotechnology journal}, doi={10.1016/j.csbj.2023.01.027}, }