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Unusual variability of PRRT2 linked phenotypes within a family

dc.contributor.authorLindenau, Matthias
dc.contributor.authorLohmann, Ebba
dc.contributor.authorOsseforth, Judith
dc.contributor.authorStodieck, Stefan
dc.contributor.authorBiskup, Saskia
dc.contributor.authorBrueckner, Frieder
dc.contributor.authorKohl, Bernhard
dc.contributor.authorPuest, Burkhard
dc.contributor.authorGassner, Silke
dc.date.accessioned2021-03-03T11:01:49Z
dc.date.available2021-03-03T11:01:49Z
dc.date.issued2014
dc.identifier.citationBrueckner 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.issn1090-3798
dc.identifier.otherav_25b98786-ffd8-444e-a5cd-8339d0d139b0
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/30244
dc.identifier.urihttps://doi.org/10.1016/j.ejpn.2014.03.012
dc.description.abstractBackground: 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.isoeng
dc.subjectNöroloji
dc.subjectTıp
dc.subjectÇocuk Sağlığı ve Hastalıkları
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectPEDİATRİ
dc.subjectKlinik Tıp (MED)
dc.subjectKlinik Tıp
dc.subjectKLİNİK NEUROLOJİ
dc.titleUnusual variability of PRRT2 linked phenotypes within a family
dc.typeMakale
dc.relation.journalEUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
dc.contributor.departmentKatholisches Kinderkrankenhaus Wilhelmstift , ,
dc.identifier.volume18
dc.identifier.issue4
dc.identifier.startpage540
dc.identifier.endpage542
dc.contributor.firstauthorID215513


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