Firdevs Dinçsoy Bir

A New Case of Rare Microdeletion 10q22.3q23 along with Mosaic Klinefelter Syndrome Associated with Facial Dysmorphic Finding, Atrial Ventricular Septal Defect, and Motor Retardation

O. Ozdemır, F. Sılan, Jelena Veličković, 2022, Molecular Syndromology.

Cleidocranial dysplasia: Clinical, endocrinologic and molecular findings in 15 patients from 11 families.

H. Kayserili, S. Poyrazoglu, F. Baş, 2017, European journal of medical genetics.

Blau syndrome with a rare mutation in exon 9 of NOD2 gene

O. Ozdemır, F. Sılan, Jelena Veličković, 2019, Autoimmunity.

The Characteristics and Long-Term Course of Epilepsy in Lipoid Proteinosis: A Spectrum From Mild to Severe Seizures in Relation to ECM1 Mutations

B. Kara, N. Bebek, C. Baykal, 2018, Clinical EEG and neuroscience.