Yayınlar & Eserler

Yayın Ağı
Makaleler 7
Tümü (7)
SCI-E, SSCI, AHCI (7)
SCI-E, SSCI, AHCI, ESCI (7)
Scopus (7)

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. Comprehensive Evaluation of Clinical, Developmental, Genetic, and Reproductive Characteristics of 133 Patients with Klinefelter Syndrome

ÜREL DEMİR G., KETENCİ İŞLEK S., GÖNEN H. N., ÜTİNE G. E., ŞİMŞEK KİPER P. Ö.
Acta Cytologica , ss.1-10, 2026 (SCI-Expanded, Scopus)

4. Distinct Clinical Presentations of Menke-Hennekam Syndrome: Insights From CREBBP and EP300 Variants

KETENCİ İŞLEK S., ÜREL DEMİR G., ÜTİNE G. E., ŞİMŞEK KİPER P. Ö.
Journal of Child Neurology , 2026 (SCI-Expanded, Scopus)

5. 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)

6. Multinodular and Vacuolating Neuronal Tumor in a Pediatric Patient with Klinefelter Syndrome and 5q33.1 Deletion: A Rare Clinical and Genetic Case Study

KETENCİ İŞLEK S., ÜREL DEMİR G., GÜNBEY C., Gümeler E., Şener N., SUSAM ŞEN H., et al.
Acta Cytologica , ss.1-6, 2026 (SCI-Expanded, Scopus)

7. 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)