Marija Volk

Ljubljana, Slovenia

Last Updated: 09/26/2026

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Found 30 publications

Atypical COQ2-Related Retinopathy in Identical Twins with Nephropathy Mimicking Intermediate Uveitis.

Atypical COQ2-Related Retinopathy in Identical Twins with Nephropathy Mimicking Intermediate Uveitis.

Journal: Ocular immunology and inflammation

Published: May 28, 2026

Discovery of PHB1 as a Novel Candidate Gene in Dominant Optic Atrophy.

Discovery of PHB1 as a Novel Candidate Gene in Dominant Optic Atrophy.

Journal: Clinical genetics

Published: February 16, 2026

Atypical Leber Hereditary Optic Neuropathy (LHON) Associated with a Novel MT-CYB:m.15309T>C(Ile188Thr) Variant.

Atypical Leber Hereditary Optic Neuropathy (LHON) Associated with a Novel MT-CYB:m.15309T>C(Ile188Thr) Variant.

Journal: Genes

Published: December 23, 2024

Preimplantation Genetic Testing within the Public Healthcare System in Slovenia.

Preimplantation Genetic Testing within the Public Healthcare System in Slovenia.

Journal: Balkan journal of medical genetics : BJMG

Published: March 14, 2024

Leber Hereditary Optic Neuropathy in a Family of Carriers of MT-ND5 m.13042G>T (A236S) Novel Variant.

Leber Hereditary Optic Neuropathy in a Family of Carriers of MT-ND5 m.13042G>T (A236S) Novel Variant.

Journal: Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society

Published: March 10, 2023

Stargardt-like Clinical Characteristics and Disease Course Associated with Variants in the WDR19 Gene.

Stargardt-like Clinical Characteristics and Disease Course Associated with Variants in the WDR19 Gene.

Journal: Genes

Published: December 10, 2022

Correlation between the Serum Concentration of Vitamin A and Disease Severity in Patients Carrying p.G90D in RHO, the Most Frequent Gene Associated with Dominant Retinitis Pigmentosa: Implications for Therapy with Vitamin A.

Correlation between the Serum Concentration of Vitamin A and Disease Severity in Patients Carrying p.G90D in RHO, the Most Frequent Gene Associated with Dominant Retinitis Pigmentosa: Implications for Therapy with Vitamin A.

Journal: International journal of molecular sciences

Published: November 15, 2022

Genetic Characteristics and Long-Term Follow-Up of Slovenian Patients with RPGR Retinal Dystrophy.

Genetic Characteristics and Long-Term Follow-Up of Slovenian Patients with RPGR Retinal Dystrophy.

Journal: International journal of molecular sciences

Published: November 15, 2022

The Relative Preservation of the Central Retinal Layers in Leber Hereditary Optic Neuropathy.

The Relative Preservation of the Central Retinal Layers in Leber Hereditary Optic Neuropathy.

Journal: Journal of clinical medicine

Published: September 01, 2022

Case report: Long-term follow-up of two patients with LHON caused by DNAJC30:c.152G>A pathogenic variant-case series.

Case report: Long-term follow-up of two patients with LHON caused by DNAJC30:c.152G>A pathogenic variant-case series.

Journal: Frontiers in neurology

Published: July 25, 2022

The Clinical Spectrum and Disease Course of DRAM2 Retinopathy.

The Clinical Spectrum and Disease Course of DRAM2 Retinopathy.

Journal: International journal of molecular sciences

Published: May 31, 2022

Disease Progression in CNGA3 and CNGB3 Retinopathy; Characteristics of Slovenian Cohort and Proposed OCT Staging Based on Pooled Data from 126 Patients from 7 Studies.

Disease Progression in CNGA3 and CNGB3 Retinopathy; Characteristics of Slovenian Cohort and Proposed OCT Staging Based on Pooled Data from 126 Patients from 7 Studies.

Journal: Current issues in molecular biology

Published: July 08, 2021

Showing 1-12 of 30

Last Updated: 09/26/2026