Ozlem Gorukmez
Bursa, Turkey
Last Updated: 09/26/2026
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Found 28 publications
ATP7B Gene Variant Profile İdentified by NGS in Wilson's Disease.
Journal: Fetal and pediatric pathology
Published: September 22, 2023
Clinical significance of hypouricemia in children and adolescents.
Journal: Pediatric nephrology (Berlin, Germany)
Published: December 16, 2022
NOTCH3 Variants in Patients with Suspected CADASIL.
Journal: Annals of Indian Academy of Neurology
Published: December 11, 2022
Lathosterolosis: a rare cholesterol metabolism disorder with a wide range of clinical variability.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: November 18, 2022
Clinical exome sequencing findings in 1589 patients.
Journal: American journal of medical genetics. Part A
Published: August 25, 2022
A Novel Homozygous Mutation in the MYO5B Gene Associated With Normal-Gamma-Glutamyl Transferase Progressive Familial Intrahepatic Cholestasis.
Journal: Cureus
Published: November 06, 2021
Recently defined epileptic encephalopathy related to WWOX gene mutation: six patients and new mutations.
Journal: Neurological research
Published: May 26, 2021
Approaches for diagnosis and treatment in neurotransmitter disorders of childhood.
Journal: Metabolic brain disease
Published: April 15, 2021
Clinical features of pediatric renal glucosuria cases due to SLC5A2 gene variants.
Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: January 30, 2021
Expanding the clinical spectrum in trichohepatoenteric syndrome.
Journal: American journal of medical genetics. Part A
Published: January 14, 2021
Last Updated: 09/26/2026