@article{UBHD-68740523,
  author={Itai, Toshiyuki and Hamanaka, Kohei and Sasaki, Kazunori and Wagner, Matias and Kotzaeridou, Urania and Br{\"o}sse, Ines and Ries, Markus and Kobayashi, Yu and Tohyama, Jun and Kato, Mitsuhiro and Ong, Winnie P. and Chew, Hui B. and Rethanavelu, Kavitha and Ranza, Emmanuelle and Blanc, Xavier and Uchiyama, Yuri and Tsuchida, Naomi and Fujita, Atsushi and Azuma, Yoshiteru and Koshimizu, Eriko and Mizuguchi, Takeshi and Takata, Atsushi and Miyake, Noriko and Takahashi, Hidehisa and Miyagi, Etsuko and Tsurusaki, Yoshinori and Doi, Hiroshi and Taguri, Masataka and Antonarakis, Stylianos E. and Nakashima, Mitsuko and Saitsu, Hirotomo and Miyatake, Satoko and Matsumoto, Naomichi},
  title={De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy},
  year={2021},
  pages={66-76},
  language={eng},
  issn={1098-1004},
  volume={42},
  number={1 vom: Jan.},
  note={First published: 01 November 2020 ; Gesehen am 25.05.2021},
  journal={Human mutation},
  doi={10.1002/humu.24130},
}
@article{UBHD-68431902,
  author={Saffari, Afshin and Br{\"o}sse, Ines and Tilburg, Cornelis M. van and Hoffmann, Georg F. and K{\"o}lker, Stefan and Witt, Olaf and Milde, Till and Ziegler, Andreas and Syrbe, Steffen},
  title={Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective study},
  year={2019},
  pages={1-13},
  language={eng},
  issn={1750-1172},
  volume={14},
  number={Artikel-ID 96},
  note={Gesehen am 20.09.2019},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-019-1077-6},
  url={https://doi.org/10.1186/s13023-019-1077-6},
  library={UB},
}
@book{UBHD-68412598,
  author={Saffari, Afshin and Br{\"o}sse, Ines and Tilburg, Cornelis M. van and Hoffmann, Georg F. and K{\"o}lker, Stefan and Witt, Olaf and Milde, Till and Ziegler, Andreas and Syrbe, Steffen},
  title={Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age},
  subtitle={a multicenter retrospective study},
  publisher={BioMed Central},
  address={London},
  year={2019},
  pages={1 Online-Ressource},
  language={eng},
  note={In: Orphanet journal of rare diseases, 14 (2019), Nr. 96. pp. 1-13. ISSN 1750-1172},
  url={https://nbn-resolving.org/urn:nbn:de:bsz:16-heidok-264004},
  library={UB},
}