Yayınlar & Eserler

Yayın Ağı
Makaleler 9
Tümü (9)
SCI-E, SSCI, AHCI (7)
SCI-E, SSCI, AHCI, ESCI (8)
ESCI (1)
Scopus (9)
TRDizin (1)

1. Fetal Aberrant Right Subclavian Artery: A Retrospective Evaluation of Prenatal Findings and Postnatal Prognosis Fetal Aberran Sağ Subklavyen Arter: Prenatal Bulguların ve Postnatal Prognozun Retrospektif Değerlendirmesi

Bozbay N., Duymuş A. C., DUYMUŞ F., Savaş F., Pekin A. T., Örgül G.
Genel Tip Dergisi , cilt.36, sa.2026, 2026 (Scopus, TRDizin) identifier

2. Novel Variants in PTPN11, NF1, RASA2, and MAP2K1: Expanding the Molecular Spectrum of RASopathies in a Turkish Cohort

Kocak Eker H., Akın Duman T., DUYMUŞ F., Basdemirci M., Eser Cavdartepe B., Çiftci N., et al.
Clinical Genetics , 2026 (SCI-Expanded, Scopus) identifier identifier

3. Influence of the IDOL Gene Variants on Low-Density Lipoprotein Cholesterol Levels in Turkish Patients with Familial Hypercholesterolemia

Duymus F., Kocak N., Özdemir E. M., Esin D., Körez M. K., Cora T.
Molecular Syndromology , cilt.16, sa.2, ss.128-137, 2025 (SCI-Expanded, Scopus) identifier identifier

4. Utility of Optical Genome Mapping in Repeat Disorders

Mutlu M. B., Karakaya T., Çelebi H. B. G., Duymuş F., Seyhan S., Yılmaz S., et al.
Clinical Genetics , cilt.107, sa.2, ss.188-195, 2025 (SCI-Expanded, Scopus) identifier identifier

5. Assessment of Pathogenic Variants in the PAH Gene and Genotype–Phenotype Correlation in Phenylketonuria Patients from Turkey

Balasar Ö., Kadıoğlu Yılmaz B., Başdemirci M., Koçak Eker H., Eser Çavdartepe B., Şimşek L., et al.
Biochemical Genetics , cilt.63, sa.1, ss.896-905, 2025 (SCI-Expanded, Scopus) Creative Commons License identifier identifier

6. Familial Hyperekplexia Caused by a Novel Homozygous SLC6A5 Variant: A Case Report

Yılmaz F. H., Kahraman A. B., DUYMUŞ F., Koçak Eker H., Çelik H., Büyükeren M., et al.
Molecular Syndromology , ss.1-5, 2025 (SCI-Expanded, Scopus) identifier identifier

7. Are decreased cocaine- and amphetamine regulated transcript and Agouti- related peptide levels associated Eating behavior in medication-free children with attention deficit and hyperactivity disorder?

Tezcan M. E., Uğur C., Can Ü., Uçak E. F., Ekici F., Duymuş F., et al.
Progress in Neuro-Psychopharmacology and Biological Psychiatry , cilt.129, 2024 (SCI-Expanded, Scopus) identifier identifier

8. Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies

Accogli A., Zaki M. S., Al-Owain M., Otaif M. Y., Jackson A., Argilli E., et al.
Brain Communications , cilt.5, sa.5, 2023 (ESCI, Scopus) identifier identifier

9. Relationship of endoplasmic reticulum stress with the etiopathogenesis of chronic tonsillitis and tonsillar hypertrophy in pediatric patients: a prospective, parallel-group study

Onal M., Kocak N., Duymus F., Bozkurt M. K., Elsurer C., Erdur O., et al.
Molecular Biology Reports , cilt.48, sa.7, ss.5579-5586, 2021 (SCI-Expanded, Scopus) identifier identifier
Metrikler

Yayın

9

Yayın (WoS)

8

Yayın (Scopus)

9

Atıf (Scopus)

18

H-İndeks (Scopus)

3

Açık Erişim

1