Ozlem G. Bozkaya
Dokuz Eylul, Turkey
Last Updated: 09/26/2026
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Found 17 publications
Grange-Like Phenotype Associated With an RNF213 Pathogenic Variant: Expanding the Vasculopathy Spectrum.
Journal: American journal of medical genetics. Part A
Published: October 31, 2025
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
Dyggve-Melchior-Clausen syndrome in three siblings: a unique case series with dual diagnosis of Down syndrome and Hirschsprung disease.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: September 05, 2025
MIRAGE syndrome in a 10-year-old girl with a novel Lys1024Glu missense variant in SAMD9.
Journal: Clinical dysmorphology
Published: May 17, 2023
Autoimmune/autoinflammatory syndrome induced by adjuvants after multi-component meningococcal serogroup B vaccination in a 7-year-old girl: a case report.
Journal: The Turkish journal of pediatrics
Published: May 25, 2022
Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium.
Journal: Functional & integrative genomics
Published: July 09, 2021
Two Cases with Ring Chromosome 13 at either End of the Phenotypic Spectrum.
Journal: Cytogenetic and genome research
Published: October 30, 2017
Identification of the largest homozygous glycine decarboxylase gene deletion in a Turkish infant.
Journal: Pediatrics and neonatology
Published: February 19, 2017
Serum motilin levels and motilin gene polymorphisms in children with functional constipation.
Journal: Minerva pediatrics
Published: October 06, 2016
HYPOPHOSPHATASIA WITH THE ASSOCIATION OF INV(1)(q11,q21.3) AND CLEFT PALATE.
Journal: Genetic counseling (Geneva, Switzerland)
Published: May 20, 2016
Last Updated: 09/26/2026