Dr. DİLSU DİCLE ERKAN KOLAÇ | AVESİS

Akademik Veri Yönetim Sistemi

Yayınlar & Eserler

Makaleler 7

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)

2. Shoulder and genetics: what orthopedic surgeons need to know

KOLAÇ U. C., Paksoy A., ERKAN KOLAÇ D. D., Akgun D.

JSES Reviews, Reports, and Techniques , cilt.6, sa.3, 2026 (Scopus)

3. 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 , cilt.34, sa.3, ss.429-437, 2026 (SCI-Expanded, Scopus)

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4. Addressing Patient Questions on Spinal Muscular Atrophy: Performance of Large Language Models in a Genetic Context Hastaların Spinal Musküler Atrofi Hakkındaki Soruları: Genetik Açıdan Büyük Dil Modellerinin Performansı

ERKAN KOLAÇ D. D., ALİKAŞİFOĞLU M.

Gazi Medical Journal , cilt.37, sa.2, ss.230-237, 2026 (ESCI, Scopus, TRDizin)

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5. 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)

6. 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 , cilt.16, sa.3, ss.283-290, 2025 (SCI-Expanded, Scopus)

7. **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)

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)

Metrikler

Yayın

9

Yayın (WoS)

7

Yayın (Scopus)

7

Açık Erişim

2