@article{UBHD-69358160, author={Burkart, Sebastian and Spanjaard, Melanie and Kaufmann, Lilian and Hinderhofer, Katrin and Schaaf, Christian P. and Ries, Markus and Hempel, Maja}, title={Phenotypical and genotypical expansion of autosomal-dominant KDM1A-related neurodevelopmental disorder spectrum}, subtitle={a case report}, year={2025}, pages={1-5}, language={eng}, issn={1552-4833}, note={Gesehen am 23.06.2025}, journal={American journal of medical genetics}, doi={10.1002/ajmg.a.64144}, } @article{UBHD-69292385, author={Heimd{\"o}rfer, David and Vorleuter, Alexander and Eschlb{\"o}ck, Alexander and Spathopoulou, Angeliki and Suarez-Cubero, Marta and Farhan, Hesso and Reiterer, Veronika and Spanjaard, Melanie and Schaaf, Christian P. and Huber, Lukas A. and Kremser, Leopold and Sarg, Bettina and Edenhofer, Frank and Geley, Stephan and de Araujo, Mariana E. G. and Huettenhofer, Alexander}, title={Truncated variants of MAGEL2 are involved in the etiologies of the Schaaf-Yang and Prader-Willi syndromes}, year={2024}, pages={1383-1404}, language={eng}, issn={1537-6605}, volume={111}, number={7 vom: Juli}, note={Online verf{\"u}gbar: 21. Juni 2024, Artikelversion: 11. Juli 2024 ; Gesehen am 20.01.2025}, journal={The American journal of human genetics}, doi={10.1016/j.ajhg.2024.05.023}, }