Oya Z. Uyguner

Istanbul, Turkey

Last Updated: 09/26/2026

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Found 16 publications

Phenotypic features of RETREG1-related hereditary sensory autonomic neuropathy.

Phenotypic features of RETREG1-related hereditary sensory autonomic neuropathy.

Journal: Journal of the peripheral nervous system : JPNS

Published: April 14, 2023

Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD

Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD

Journal: Journal of clinical research in pediatric endocrinology

Published: February 09, 2022

BEND4 as a Candidate Gene for an Infection-Induced Acute Encephalopathy Characterized by a Cyst and Calcification of the Pons and Cerebellar Atrophy.

BEND4 as a Candidate Gene for an Infection-Induced Acute Encephalopathy Characterized by a Cyst and Calcification of the Pons and Cerebellar Atrophy.

Journal: Molecular syndromology

Published: March 03, 2021

Functional Connectivity Analysis in Heterozygous Glucocerebrosidase Mutation Carriers.

Functional Connectivity Analysis in Heterozygous Glucocerebrosidase Mutation Carriers.

Journal: Journal of Parkinson's disease

Published: January 25, 2021

Frequency of frontotemporal dementia-related gene variants in Turkey.

Frequency of frontotemporal dementia-related gene variants in Turkey.

Journal: Neurobiology of aging

Published: January 14, 2021

A novel PSEN2 p.Ser175Phe variant in a family with Alzheimer's disease.

A novel PSEN2 p.Ser175Phe variant in a family with Alzheimer's disease.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: July 14, 2020

Primary coenzyme Q10 Deficiency-6 (COQ10D6): Two siblings with variable expressivity of the renal phenotype.

Primary coenzyme Q10 Deficiency-6 (COQ10D6): Two siblings with variable expressivity of the renal phenotype.

Journal: European journal of medical genetics

Published: June 01, 2018

A Rare Cause of Congenital Adrenal Hyperplasia: Clinical and Genetic Findings and Follow-up Characteristics of Six Patients with 17-Hydroxylase Deficiency Including Two Novel Mutations

A Rare Cause of Congenital Adrenal Hyperplasia: Clinical and Genetic Findings and Follow-up Characteristics of Six Patients with 17-Hydroxylase Deficiency Including Two Novel Mutations

Journal: Journal of clinical research in pediatric endocrinology

Published: March 30, 2018

The Characteristics and Long-Term Course of Epilepsy in Lipoid Proteinosis: A Spectrum From Mild to Severe Seizures in Relation to ECM1 Mutations.

The Characteristics and Long-Term Course of Epilepsy in Lipoid Proteinosis: A Spectrum From Mild to Severe Seizures in Relation to ECM1 Mutations.

Journal: Clinical EEG and neuroscience

Published: April 25, 2017

Nasu Hakola Disease: A Rare Cause of Dementia and Cystic Bone Lesions, Report of a New Turkish Family.

Nasu Hakola Disease: A Rare Cause of Dementia and Cystic Bone Lesions, Report of a New Turkish Family.

Journal: Noro psikiyatri arsivi

Published: December 17, 2016

"Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports".

"Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports".

Journal: BMC medical genetics

Published: July 14, 2016

ALX4 related parietal foramina mimicking encephalocele in prenatal period.

ALX4 related parietal foramina mimicking encephalocele in prenatal period.

Journal: Prenatal diagnosis

Published: March 01, 2016

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Last Updated: 09/26/2026