Novel progressive myoclonus epilepsy syndrome caused by a recurrent homozygous variant of SLC7A6OS

Labalme A., Mazzola L., Muona M., BAYKAL B., Joensuu T. H., Courage C., ...More

EUROPEAN JOURNAL OF HUMAN GENETICS, vol.28, no.SUPPL 1, pp.414, 2020 (SCI-Expanded, Scopus)

  • Publication Type: Article / Abstract
  • Volume: 28 Issue: SUPPL 1
  • Publication Date: 2020
  • Journal Name: EUROPEAN JOURNAL OF HUMAN GENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database
  • Page Numbers: pp.414
  • Istanbul University Affiliated: Yes