1 Ocak 2016 Dergi makalesi Açık Erişim

Djemie, Tania; Weckhuysen, Sarah; von Spiczak, Sarah; Carvill, Gemma L.; Jaehn, Johanna; Anttonen, Anna-Kaisa; Brilstra, Eva; Caglayan, Hande S.; de Kovel, Carolien G.; Depienne, Christel; Gaily, Eija; Hamalainen, Eija; Giraldez, Beatriz G.; Gormley, Padhraig; Guerrero-Lopez, Rosa; Guerrini, Renzo; Hamalainen, Eija; Hartmann, Corinna; Hernandez-Hernandez, Laura; Hjalgrim, Helle; Hjalgrim, Helle

BibTeX

@article{djemie_tania_2016_60339,
  author       = {Djemie, Tania and
                  Weckhuysen, Sarah and
                  von Spiczak, Sarah and
                  Carvill, Gemma L. and
                  Jaehn, Johanna and
                  Anttonen, Anna-Kaisa and
                  Brilstra, Eva and
                  Caglayan, Hande S. and
                  de Kovel, Carolien G. and
                  Depienne, Christel and
                  Gaily, Eija and
                  Hamalainen, Eija and
                  Giraldez, Beatriz G. and
                  Gormley, Padhraig and
                  Guerrero-Lopez, Rosa and
                  Guerrini, Renzo and
                  Hamalainen, Eija and
                  Hartmann, Corinna and
                  Hernandez-Hernandez, Laura and
                  Hjalgrim, Helle and
                  Hjalgrim, Helle},
  title        = {{Pitfalls in genetic testing: the story of missed 
                   SCN1A mutations}},
  journal      = {MOLECULAR GENETICS \& GENOMIC MEDICINE},
  year         = 2016,
  volume       = 4,
  number       = 4,
  pages        = {457-464},
  month        = jan,
}