Yayınlar & Eserler

Yayın Ağı
Makaleler 5
Tümü (5)
SCI-E, SSCI, AHCI (5)
SCI-E, SSCI, AHCI, ESCI (5)
Scopus (5)

1. Digital multiplex ligation-dependent probe amplification identifies exon-level copy number variants in patients with suspected hereditary cancer and negative next-generation sequencing results

DURMAZ ÖZDİNÇ C. D., Bulut N. S., ERKAN KOLAÇ D. D., KERTMEN N., AKÇİN Ö. Ç., DİZDAR Ö., et al.
Molecular Biology Reports , cilt.53, sa.1, 2026 (SCI-Expanded, Scopus) identifier identifier

2. TMC6/8-associated epidermodysplasia verruciformis: germline variants and a complex structural alteration in a skin cancer predisposition syndrome

DURMAZ ÖZDİNÇ C. D., Güleray Lafcı N., ERKAN KOLAÇ D. D., AKÇİN Ö. Ç., Bulut N., Kuş F., et al.
European Journal of Human Genetics , 2026 (SCI-Expanded, Scopus) Creative Commons License identifier identifier

3. Long-Term Clinical Characterization of ENTPD1-Related Spastic Paraplegia: A Novel Variant and Comprehensive Literature Review

ERKAN KOLAÇ D. D., Lafci O., ÖZTOPRAK Ü., Haliloglu G., GÜLERAY LAFCI N.
INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE , cilt.85, sa.5, 2025 (SCI-Expanded, Scopus) identifier identifier

4. Odyssey of the first female pioneer with an intragenic TCF12 deletion in hypogonadotropic hypogonadism 26

ERKAN D. D., Sezer A., Cetinkaya S., GÜLERAY LAFCI N.
EUROPEAN JOURNAL OF HUMAN GENETICS , ss.1348, 2024 (SCI-Expanded, Scopus) identifier

5. Enhancing Genetic Insight: Chromosomal Microarray Enhances Understanding of Genetics in Rubinstein-Taybi Syndrome

ERKAN D. D., SOĞUKPINAR M., ÜREL DEMİR G., ÜTİNE G. E., ŞİMŞEK KİPER P. Ö.
MOLECULAR SYNDROMOLOGY , 2024 (SCI-Expanded, Scopus) identifier identifier identifier
Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler 1

1. Comprehensive approach focusing on the molecular profile of a rare genodermatosis: Epidermodysplasia Verruciformis

ERKAN D. D., Akcin O., DURMAZ ÖZDİNÇ C. D., ATEŞ ÖZDEMİR D., GÜLERAY LAFCI N., DİZDAR Ö.
56th Annual Conference of the European-Society-of-Human-Genetics (ESHG), Glasgow, İngiltere, 10 - 13 Haziran 2023, ss.397, (Özet Bildiri) identifier
Metrikler

Yayın

7

Yayın (WoS)

6

Yayın (Scopus)

5

Açık Erişim

1