SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler
6
“Severe intellectual disability with cardiac and dermatologic involvement due to homozygous METTL23 frameshift mutation: a case report of two Turkish sisters”
Neurological Sciences, Cilt: 47, Sayı: 8, 2026 (SCI-Expanded)
Corrigendum to “Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndrome” [Biochim. Biophys. Acta Mol. Basis Dis. 1872 (2026)/168184]
Biochimica et Biophysica Acta - Molecular Basis of Disease, Cilt: 1872, Sayı: 5, 2026 (SCI-Expanded)
Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndrome
Biochimica et Biophysica Acta - Molecular Basis of Disease, Cilt: 1872, Sayı: 4, 2026 (SCI-Expanded)
L-DOPA in diurnal fluctuating dystonia: two different clinical presentations, one treatment
Neurogenetics, Cilt: 26, Sayı: 1, 2025 (SCI-Expanded)
Phenotypic variability in progressive encephalopathy with brain atrophy and thin corpus callosum: insights from two families
Neurogenetics, Cilt: 26, Sayı: 1, 2025 (SCI-Expanded)
Novel PIBF1 Pathogenic Variant in Three Siblings with Joubert Syndrome Type 33
Molecular Syndromology, Cilt: 16, Sayı: 5, 2025 (SCI-Expanded)