Arş. Gör. SERAP KETENCİ İŞLEK | AVESİS

Akademik Veri Yönetim Sistemi

Yayınlar & Eserler

Makaleler 4

1. Two siblings with a homozygous EEF1B2 loss-of-function variant: expanding the phenotypic spectrum of EEF1B2-related neurodevelopmental disorder

Ketenci-İşlek S., ÜREL DEMİR G., ÜTİNE G. E., ŞİMŞEK KİPER P. Ö.

Neurogenetics , cilt.27, sa.1, 2026 (SCI-Expanded, Scopus)

2. First Report of a Novel ZNF462 Variant Linked to Weiss-Kruszka Syndrome and Congenital Diaphragmatic Hernia: Insights into Potential Additional Malformations

Ketenci-İşlek S., ÜREL DEMİR G., ÜTİNE G. E., ŞİMŞEK KİPER P. Ö.

Molecular Syndromology , cilt.17, sa.1, ss.90-95, 2026 (SCI-Expanded, Scopus)

3. Hypertrophic cardiomyopathy as a novel phenotypic feature of NSUN3 -related mitochondrial disease: a case report with review of the literature

Ersak A. Ş., ÇAĞIRAN T., KOÇYİĞİT A., ÇIKI K., YILDIZ Y., AYPAR E., et al.

Journal of Pediatric Endocrinology and Metabolism , 2026 (SCI-Expanded, Scopus)

4. EFTUD2 gene-associated mandibulofacial dysostosis, Guion-Almeida type: Case series of four Turkish patients

KETENCİ İŞLEK S., SOĞUKPINAR M., ÜREL DEMİR G., Simsek-Kiper P., ÜTİNE G. E.

EUROPEAN JOURNAL OF HUMAN GENETICS , ss.1114, 2024 (SCI-Expanded, Scopus)