Avtor/Urednik     Tumienè, Birutè; Maver, Aleš; Writzl, Karin; Hodžić, Alenka; Čuturilo, Goran; Kuzmanić-Šamija, Radenka; Čulić, Vida; Peterlin, Borut
Naslov     Diagnostic exome sequencing of syndromic epilepsy patients in clinical practice
Tip     članek
Vol. in št.     Letnik 93, št. 5
Leto izdaje     2018
Obseg     str. 1057-1062
ISSN     0009-9163 - Clinical genetics
Jezik     eng
Proste vsebinske oznake     diagnostic yield
epilepsy genetic
monogenic epilepsies
next-generation sequencing
SOX5
UBA5