@article{UBHD-68706068,
  author={Brugger, Melanie and Brunet, Theresa and Wagner, Matias and Orec, Laura and Schwaibold, Eva and Boy, Nikolas},
  title={Locus heterogeneity in two siblings presenting with developmental delay, intellectual disability and autism spectrum disorder},
  year={2021},
  language={eng},
  issn={1879-0038},
  volume={768(2021) Artikel-Nummer 145260},
  number={6 Seiten},
  note={Available online 22 October 2020 ; Gesehen am 02.03.2021},
  journal={Gene},
  doi={10.1016/j.gene.2020.145260},
}
@article{UBHD-68762899,
  author={Hoed, Joery den and de Boer, Elke and Voisin, Norine and Dingemans, Alexander J. M. and Guex, Nicolas and Wiel, Laurens and Nellaker, Christoffer and Amudhavalli, Shivarajan M. and Banka, Siddharth and Bena, Frederique S. and Ben-Zeev, Bruria and Bonagura, Vincent R. and Bruel, Ange-Line and Brunet, Theresa and Brunner, Han G. and Chew, Hui B. and Chrast, Jacqueline and Cimbalistienė, Loreta and Coon, Hilary and Délot, Emmanuèlle C. and Démurger, Florence and Denommé-Pichon, Anne-Sophie and Depienne, Christel and Donnai, Dian and Dyment, David A. and Elpeleg, Orly and Faivre, Laurence and Gilissen, Christian and Granger, Leslie and Haber, Benjamin and Hachiya, Yasuo and Abedi, Yasmin Hamzavi and Hanebeck, Jennifer and Hehir-Kwa, Jayne Y. and Horist, Brooke and Itai, Toshiyuki and Kotzaeridou, Urania and Orec, Laura},
  title={Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction},
  year={2021},
  pages={346-356},
  language={eng},
  issn={1537-6605},
  volume={108},
  number={2 vom: Feb.},
  note={Gesehen am 24.07.2021},
  journal={The American journal of human genetics},
  doi={10.1016/j.ajhg.2021.01.007},
}
@article{UBHD-68967617,
  author={Skorvanek, Matej and Rektorova, Irena and Mandemakers, Wim and Wagner, Matias and Steinfeld, Robert and Orec, Laura and Han, Vladimir and Pavelekova, Petra and Lackova, Alexandra and Kulcsarova, Kristina and Ostrozovicova, Miriam and Gdovinova, Zuzana and Plecko, Barbara and Brunet, Theresa and Berutti, Riccardo and Kuipers, Demy J. S. and Boumeester, Valerie and Havrankova, Petra and Tijssen, M. A. J. and Kaiyrzhanov, Rauan and Rizig, Mie and Houlden, Henry and Winkelmann, Juliane and Bonifati, Vincenzo and Zech, Michael and Jech, Robert},
  title={WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia},
  year={2022},
  pages={54-61},
  language={eng},
  issn={1873-5126},
  volume={94(2022) vom: Jan.},
  note={Version des Artikels 7 December 2021 ; Gesehen am 27.09.2022},
  journal={Parkinsonism & related disorders},
  doi={10.1016/j.parkreldis.2021.11.030},
}