Deniz Ağırbaşlı

Akademik Profiller

1. 1
   Bilateral plaque like macular atrophy and pigmentary retinopathy in an infant with a missense mutation in the MFF geneOphthalmic Genetics
   2023
2. 2
   Evaluation of Clinical Findings and Molecular Genetic Results of the Patients with CACNA1A Variants: Single Center ExperienceNeurology
   2023
3. 3
   Novel Variants and Phenotypic Heterogeneity in Congenital Insensitivity to PainNeurology
   2023
4. 4
   Pigmentary retinopathy with perivascular sparing in a SOFT syndrome patient with a novel homozygous splicing variant in POC1A geneOphthalmic Genetics
   2023
5. 5
   Frequency of Y chromosome Microdeletions in Turkish Infertile Men: Single Center ExperienceGenel Tıp Dergisi
   2022
6. 6
   Association of Celiac Disease and Plasminogen Activator Inhibitor-1 PolymorphismGenel Tıp Dergisi
   2022
7. 7
   Leukocyte telomere length as a compensatory mechanism in vitamin D metabolismPLOS ONE
   2022
8. 8
   47,XXY/46,XX/46,XY mosaic Klinefelter Syndrome accompanied by mixed connective tissue disorder: A very rare caseEuropean Journal of Human Genetics
   2022
9. 9
   Radiation exposure in pregnancy: outcomes, perceptions and teratological counseling in Turkish womenAnnals of Saudi Medicine
   2022

Yayın listesi ORCID kaydından alındı.