Irem Kalay
Istanbul, Turkey
Last Updated: 09/26/2026
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Found 8 publications
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
Expanding the Neurodevelopmental Spectrum of Xia-Gibbs Syndrome: New Clinical Entities and Novel Variants From a Turkish Cohort.
Journal: Developmental neurobiology
Published: March 05, 2026
Clinical and genetic heterogeneity of syndromic hearing loss and its non-syndromic hearing loss mimics.
Journal: Molecular medicine (Cambridge, Mass.)
Published: July 22, 2025
The Diagnostic Utility of Prenatal Microarray in High-Risk Pregnancies: A Single-Center Experience in Enhancing Reproductive Care and Risk Stratification.
Journal: Diagnostics (Basel, Switzerland)
Published: July 15, 2025
Clinical classification and molecular interpretation of germline pathogenic TP53 variations detected by multigene panel testing in patients with possible cancer predisposition.
Journal: Molecular genetics and genomics : MGG
Published: December 27, 2024
Lysinuric protein intolerance caused by a homozygous SLC7A7 deletion and presented with hyperferritinemia and osteoporosis in two siblings.
Journal: Molecular genetics and metabolism reports
Published: September 06, 2023
Novel GALT variations and genetic spectrum in Turkish population with the correlation of genotype and phenotype.
Journal: Annals of human genetics
Published: June 09, 2023
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Last Updated: 09/26/2026