Ayca Aykut
Ege, Turkey
Last Updated: 09/26/2026
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Found 111 publications
Leber's Hereditary Optic Neuropathy from a Rare Variant, m.3700 G > A, in the MT-ND1 Gene in a Family.
Journal: Neuro-ophthalmology (Aeolus Press)
Published: June 30, 2026
Broadening the Okur-Chung syndrome phenotype: adult-onset metabolic features and a contiguous 20p13 deletion in a Turkish multicenter cohort.
Journal: Journal of human genetics
Published: May 24, 2026
The Clinical and Molecular Spectrum of Turkish Patients with Syndromic Craniosynostosis: A Single Center Study.
Journal: Turkish archives of pediatrics
Published: May 05, 2026
Functional Characterization of a Novel Splice-Altering Intronic Variant in AMPD2 Associated with Pontocerebellar Hypoplasia Type 9.
Journal: Cerebellum (London, England)
Published: February 24, 2026
Low IgM Levels in Adult IEI: Classification Challenges and Clinical Implications.
Journal: Journal of clinical immunology
Published: December 26, 2025
Evaluation of Experienced Clinical Events in Pompe Disease Based on Real-life Data.
Journal: Neuropediatrics
Published: December 26, 2025
Granulomatous and Lymphocytic Interstitial Lung Disease in Hyper-IgM Syndrome.
Journal: Scandinavian journal of immunology
Published: October 17, 2025
Genotype-Phenotype Correlations and Shifting Diagnosis Age in Turkish Mucopolysaccharidosis Type II Patients: A Multicenter Retrospective Study.
Journal: Diagnostics (Basel, Switzerland)
Published: September 30, 2025
How narrow is narrow QRS in premature ventricular contractions? A novel variant of SCN5A-associated MEPPC.
Journal: HeartRhythm case reports
Published: September 15, 2025
Real-World Experience from Türkiye: Genetic and Therapeutic Insights in Pediatric Heterozygous Familial Hypercholesterolemia
Journal: Journal of clinical research in pediatric endocrinology
Published: August 28, 2025
CARD9 Mutations in Patients with Invasive Fungal Infections.
Journal: Mycopathologia
Published: July 31, 2025
Application of the North American Familial Chylomicronemia Syndrome Score (NAFCS Score) in monogenic hypertriglyceridemia patients: A single-center Turkish cohort study.
Journal: Journal of clinical lipidology
Published: July 21, 2025
Last Updated: 09/26/2026