Makaleler

Tümü (4)

SCI-E, SSCI, AHCI (4)

SCI-E, SSCI, AHCI, ESCI (4)

Scopus (4)

2025

2025

1. A comprehensive integrated disease management program for phenylketonuria (IDMP-PKU) from Türkiye: rationale, design and patient characteristics

Balci M. C., Kor D., Yıldız Y., Karaca M., Bulut F. D., Kahraman A. B., et al.

Orphanet Journal of Rare Diseases , cilt.20, sa.1, 2025 (SCI-Expanded, Scopus)

2025

2025

2. Neurological involvement in 51 cystinosis patients: A single-center experience

BURGAÇ E., Yılmaz S. D., BULUT F. D., KOR D., Kara E., Köseci B., et al.

European Journal of Paediatric Neurology , cilt.57, ss.50-56, 2025 (SCI-Expanded, Scopus)

2025

2025

3. 5-Oxoprolinase Deficiency and Epilepsy: A Report of Four Cases with New Clinical Findings and Clinical Diversity Even in the Same Family

Koseci B., Kara E., Burgac E., Kaplan I., KOR D., BULUT F. D., et al.

Molecular Syndromology , 2025 (SCI-Expanded, Scopus)

2024

2024

4. Early diagnostic clues of mucolipidosis type II: Significance of radiological findings

BURGAÇ E., Kaplan İ., Köseci B., Kara E., KOR D., BULUT F. D., et al.

American Journal of Medical Genetics, Part A , 2024 (SCI-Expanded)