Exploring Molecular and Phenotypic Characteristics of NAGLU Arg234Gly and Asp312Asn Variants

Sadeleştirilmiş öğe sayfası
dc.contributor.authorCelebiler, Hande Kaymakcalan
dc.contributor.authorBarak, Tanyeri
dc.contributor.authorRai, Devendra K.
dc.contributor.authorKaya, Ilyas
dc.contributor.authorErbilgin, Seda
dc.contributor.authorUytun, Merve Cikili
dc.contributor.authorOztop, Didem
dc.contributor.authorGumus, Hakan
dc.contributor.authorPer, Huseyin
dc.contributor.authorCeylaner, Serdar
dc.contributor.authorBozkurt, Icten
dc.contributor.authorKontaridis, Maria I.
dc.contributor.authorBilguvar, Kaya
dc.contributor.authorAkhun, Nilay
dc.contributor.authorKilincaslan, Ayse
dc.contributor.authorCaglayan, Ahmet Okay
dc.contributor.authorErson\\-Omay, E. Zeynep
dc.contributor.authorGunel, Murat
dc.contributor.authorErcan\\-Sencicek, A. Gulhan
dc.date.accessioned2025-10-16T15:12:27Z
dc.date.issued2025
dc.identifier.doi10.1159/000542367
dc.identifier.otherWOS:001371391100001
dc.identifier.urihttps://openaccess.acibadem.edu.tr/handle/11443/5443
dc.publisherKARGER
dc.sourceMOLECULAR SYNDROMOLOGY
dc.subjectNAGLU
dc.subjectMucopolysaccharidoses IIIB
dc.subjectAutism spectrum disorder
dc.subjectLysosomal enzyme
dc.subjectWhole\\-exome sequencing
dc.titleExploring Molecular and Phenotypic Characteristics of NAGLU Arg234Gly and Asp312Asn Variants
dc.typeArticle

Dosyalar

Koleksiyonlar

WOS