Yayınlar & Eserler

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

1. Expanding the clinical and molecular spectrum of NGLY1 deficiency: A multicenter cohort

Yılmaz-Gümüş E., KILAVUZ S., Demir Ş., Aydoğan A., Genç E., Akar H. T., et al.
Molecular Genetics and Metabolism , cilt.148, sa.4, 2026 (SCI-Expanded, Scopus)

2. Genetic Landscape of Pediatric Dyslipidemia in a Turkish Cohort: Insights From a Single-Center Experience

Erdoğan K. M., AKCAN M. B., Yazıcı H., ÖZYILMAZ B., ÖZDEMİR T. R., Kaya Ö. Ö., et al.
Annals of Human Genetics , cilt.90, sa.3, ss.145-154, 2026 (SCI-Expanded, Scopus)

3. Real-World Experience from Türkiye: Genetic and Therapeutic Insights in Pediatric Heterozygous Familial Hypercholesterolemia

Yazıcı H., ER E., Erdem F., Yanbolu A. Y., Mammadova S., Alpdoğan S., et al.
JCRPE Journal of Clinical Research in Pediatric Endocrinology , cilt.18, sa.1, ss.74-84, 2026 (SCI-Expanded, Scopus, TRDizin)

4. Ketogenic Diet in Niemann-Pick Type C: Insights From a Case Report

Kulu B., TEKE KISA P., ER E., Pekuz S., Akisin Z., CEYLANER S., et al.
International Journal of Developmental Neuroscience , cilt.85, sa.6, 2025 (SCI-Expanded, Scopus)

5. The effect of triheptanoin treatment on clinical and laboratory outcomes in patients with long-chain fatty acid oxidation disorder

KÖSE E., İNCİ A., Yazıcı H., ZÜBARİOĞLU T., KILAVUZ S., ÇIKI K., et al.
European Journal of Pediatrics , cilt.184, sa.6, 2025 (SCI-Expanded, Scopus)

6. Four cases of Chanarin-Dorfman syndrome presenting with different types of erythrokeratoderma

ÇETİNARSLAN T., Yazıcı H., Erdoğan K. M., KALKAN UÇAR S., Dalgıç G., Kaya G., et al.
Pediatric Dermatology , cilt.41, sa.6, ss.1174-1178, 2024 (SCI-Expanded, Scopus)

7. A female case of 5,10-methenyltetrahydrofolate synthetase deficiency with novel neuro-imaging abnormalities

Cavusoglu D., Kose M., ER E., Elmas M., Gencpinar P., Dundar N. O., et al.
Brain and Development , cilt.44, sa.9, ss.640-644, 2022 (SCI-Expanded, Scopus)

8. Neuronal ceroid lipofuscinosis: genetic and phenotypic spectrum of 14 patients from Turkey

Kose M., KÖSE E., ÜNALP A., YILMAZ Ü., Edizer S., Tekin H. G., et al.
Neurological Sciences , cilt.42, sa.3, ss.1103-1111, 2021 (SCI-Expanded, Scopus)
Metrikler

Yayın

8

Yayın (WoS)

8

Yayın (Scopus)

8

H-İndeks (WoS)

4

Atıf (Scopus)

31

H-İndeks (Scopus)

4

Proje

1