TR
EN
image
1,2K
Dr. Öğr. Üyesi Büşra Aynekin

Yayınlar & Eserler

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)