1 Ocak 2013 Dergi makalesi Açık Erişim

Suls, Arvid; Jaehn, Johanna A.; Kecskes, Angela; Weber, Yvonne; Weckhuysen, Sarah; Craiu, Dana C.; Siekierska, Aleksandra; Djemie, Tania; Afrikanova, Tatiana; Gormley, Padhraig; von Spiczak, Sarah; Kluger, Gerhard; Iliescu, Catrinel M.; Talvik, Tiina; Talvik, Inga; Meral, Cihan; Caglayan, Hande S.; Giraldez, Beatriz G.; Serratosa, Jose; Lemke, Johannes R.; Lemke, Johannes R.

BibTeX

@article{suls_arvid_2013_12867,
  author       = {Suls, Arvid and
                  Jaehn, Johanna A. and
                  Kecskes, Angela and
                  Weber, Yvonne and
                  Weckhuysen, Sarah and
                  Craiu, Dana C. and
                  Siekierska, Aleksandra and
                  Djemie, Tania and
                  Afrikanova, Tatiana and
                  Gormley, Padhraig and
                  von Spiczak, Sarah and
                  Kluger, Gerhard and
                  Iliescu, Catrinel M. and
                  Talvik, Tiina and
                  Talvik, Inga and
                  Meral, Cihan and
                  Caglayan, Hande S. and
                  Giraldez, Beatriz G. and
                  Serratosa, Jose and
                  Lemke, Johannes R. and
                  Lemke, Johannes R.},
  title        = {{De Novo Loss-of-Function Mutations in CHD2 Cause a 
                   Fever-Sensitive Myoclonic Epileptic Encephalopathy
                   Sharing Features with Dravet Syndrome}},
  journal      = {AMERICAN JOURNAL OF HUMAN GENETICS},
  year         = 2013,
  volume       = 93,
  number       = 5,
  pages        = {967-975},
  month        = jan,
}