dc.contributor.author | Lindenau, Matthias | |
dc.contributor.author | Lohmann, Ebba | |
dc.contributor.author | Osseforth, Judith | |
dc.contributor.author | Stodieck, Stefan | |
dc.contributor.author | Biskup, Saskia | |
dc.contributor.author | Brueckner, Frieder | |
dc.contributor.author | Kohl, Bernhard | |
dc.contributor.author | Puest, Burkhard | |
dc.contributor.author | Gassner, Silke | |
dc.date.accessioned | 2021-03-03T11:01:49Z | |
dc.date.available | 2021-03-03T11:01:49Z | |
dc.date.issued | 2014 | |
dc.identifier.citation | Brueckner F., Kohl B., Puest B., Gassner S., Osseforth J., Lindenau M., Stodieck S., Biskup S., Lohmann E., "Unusual variability of PRRT2 linked phenotypes within a family", EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, cilt.18, sa.4, ss.540-542, 2014 | |
dc.identifier.issn | 1090-3798 | |
dc.identifier.other | av_25b98786-ffd8-444e-a5cd-8339d0d139b0 | |
dc.identifier.other | vv_1032021 | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/30244 | |
dc.identifier.uri | https://doi.org/10.1016/j.ejpn.2014.03.012 | |
dc.description.abstract | Background: Mutations in the proline-rich transmembrane protein 2 (PRRT2) gene on chromosome 16p11.2 have recently been identified as a cause of paroxysmal kinesigenic dyskinesias (PKD), infantile convulsions and choreoathetosis (ICCA) syndrome or infantile convulsions (IC). | |
dc.language.iso | eng | |
dc.subject | Nöroloji | |
dc.subject | Tıp | |
dc.subject | Çocuk Sağlığı ve Hastalıkları | |
dc.subject | Sağlık Bilimleri | |
dc.subject | Dahili Tıp Bilimleri | |
dc.subject | PEDİATRİ | |
dc.subject | Klinik Tıp (MED) | |
dc.subject | Klinik Tıp | |
dc.subject | KLİNİK NEUROLOJİ | |
dc.title | Unusual variability of PRRT2 linked phenotypes within a family | |
dc.type | Makale | |
dc.relation.journal | EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY | |
dc.contributor.department | Katholisches Kinderkrankenhaus Wilhelmstift , , | |
dc.identifier.volume | 18 | |
dc.identifier.issue | 4 | |
dc.identifier.startpage | 540 | |
dc.identifier.endpage | 542 | |
dc.contributor.firstauthorID | 215513 | |