B. Albuz

Is BCL11B a potential candidate gene for the diffuse cutaneous mastocytosis: A case report

O. Ozdemır, O. Yildiz, F. Sılan, 2020, Cumhuriyet Medical Journal.

A rare missense Duchenne muscular dystrophy gene variant in a family with muscular dystrophy from Turkey

H. Akça, Aydın Demiray, O. Tokgün, 2022, The European Research Journal.

Congenital Central Hypothyroidism Caused by a Novel Thyroid-Stimulating Hormone-Beta Subunit Gene Mutation in Two Siblings

B. Özhan, B. Albuz, B. Sarikepe, 2017, Journal of clinical research in pediatric endocrinology.

De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy

F. Benfenati, V. Narayanan, L. Maragliano, 2018, Brain : a journal of neurology.

Evaluating of colchicine use patterns and attack frequency of familial Mediterranean fever patients in the COVID‐19 pandemic

O. Ozdemır, F. Sılan, B. Albuz, 2022, International Journal of Rheumatic Diseases.

The high frequency of chromosomal copy number variations and candidate genes in epilepsy patients

O. Ozdemır, F. Sılan, B. Albuz, 2021, Clinical Neurology and Neurosurgery.

A novel nonsense mutation in CHST3 in a Turkish patient with spondyloepiphyseal dysplasia, Omani type.

B. Özhan, G. Cetin, N. Sabir, 2019, Clinical dysmorphology.

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

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