Ozlem Bozkaya-Giray
Dokuz Eylul, Turkey
Last Updated: 09/26/2026
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Found 18 publications
THUMPD1-Related Neurodevelopmental Disorder: A Novel Homozygous Loss-of-Function Variant with an Unusual Skeletal Phenotype - A Case Report.
Journal: Molecular syndromology
Published: January 15, 2026
Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diverse than assumed.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 01, 2025
Genotypic and Phenotypic Landscape of KBG Syndrome: A Study of 23 Turkish Individuals.
Journal: American journal of medical genetics. Part A
Published: April 26, 2025
Emergence of osteolysis as a new radiological feature in a case with a novel BMP2 gene variant.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: February 25, 2025
Investigation of genotype-phenotype and familial features of Turkish dystrophinopathy patients.
Journal: Neurogenetics
Published: November 20, 2023
Genetic, serological and clinical evaluation of childhood myasthenia syndromes- single center subgroup analysis experience in Turkey.
Journal: Acta neurologica Belgica
Published: April 04, 2023
Investigation of different genomic variants in familial Mediterranean fever cases with monoallelic MEFV mutation.
Journal: Clinical and experimental rheumatology
Published: November 08, 2022
Hemoglobin A1C can differentiate subjects with GCK mutations among patients suspected to have MODY.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: August 02, 2022
Blended Phenotype of Pelger-Huet Anomaly with Osteochondroma and Autosomal Recessive Deafness with Enlarged Vestibular Aqueduct.
Journal: Molecular syndromology
Published: January 13, 2021
De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family.
Journal: International journal of molecular sciences
Published: January 08, 2021
Last Updated: 09/26/2026