Todor Arsov

Canberra, ACT, Australia

Last Updated: 09/26/2026

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Found 27 publications

Nephrotic Syndrome Induced by Tiopronin in a Male Patient with Cystinuria.

Nephrotic Syndrome Induced by Tiopronin in a Male Patient with Cystinuria.

Journal: Balkan journal of medical genetics : BJMG

Published: November 07, 2025

Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.

Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.

Journal: HGG advances

Published: January 14, 2025

Endocrinologist-led genomic testing for monogenic diabetes in adult diabetes clinics: a feasibility and outcome study.

Endocrinologist-led genomic testing for monogenic diabetes in adult diabetes clinics: a feasibility and outcome study.

Journal: Diabetes research and clinical practice

Published: November 14, 2024

Trio Whole Exome Sequencing in Chinese Childhood-Onset Lupus Reveals Novel Candidate Genes.

Trio Whole Exome Sequencing in Chinese Childhood-Onset Lupus Reveals Novel Candidate Genes.

Journal: Arthritis & rheumatology (Hoboken, N.J.)

Published: September 26, 2024

A Novel Pathogenic TUBA1A Variant in a Croatian Infant Is Linked to a Severe Tubulinopathy with Walker-Warburg-like Features.

A Novel Pathogenic TUBA1A Variant in a Croatian Infant Is Linked to a Severe Tubulinopathy with Walker-Warburg-like Features.

Journal: Genes

Published: July 12, 2024

Case report: First diagnosis of Fabry disease in North Macedonia in a patient presenting with kidney failure on hemodialysis.

Case report: First diagnosis of Fabry disease in North Macedonia in a patient presenting with kidney failure on hemodialysis.

Journal: Frontiers in genetics

Published: April 11, 2024

Whole exome sequencing in patients with childhood-onset systemic lupus erythematosus: Results from a Croatian national study.

Whole exome sequencing in patients with childhood-onset systemic lupus erythematosus: Results from a Croatian national study.

Journal: Scandinavian journal of immunology

Published: February 04, 2024

The Role of Genetic Risk Factors in Pathogenesis of Childhood-Onset Systemic Lupus Erythematosus.

The Role of Genetic Risk Factors in Pathogenesis of Childhood-Onset Systemic Lupus Erythematosus.

Journal: Current issues in molecular biology

Published: June 22, 2023

Semilobar Holoprosencephaly Caused by a Novel and De Novo ZIC2 Pathogenic Variant.

Semilobar Holoprosencephaly Caused by a Novel and De Novo ZIC2 Pathogenic Variant.

Journal: Balkan journal of medical genetics : BJMG

Published: June 02, 2023

Ataxia telangiectasia and juvenile idiopathic arthritis: A coincidence or a relationship?

Ataxia telangiectasia and juvenile idiopathic arthritis: A coincidence or a relationship?

Journal: Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology

Published: March 11, 2023

"We've Opened Pandora's Box, Haven't We?" Clinical Geneticists' Views on Ethical Aspects of Genomic Testing in Neonatal Intensive Care.

"We've Opened Pandora's Box, Haven't We?" Clinical Geneticists' Views on Ethical Aspects of Genomic Testing in Neonatal Intensive Care.

Journal: Balkan journal of medical genetics : BJMG

Published: March 07, 2023

De Novo PACSIN1 Gene Variant Found in Childhood Lupus and a Role for PACSIN1/TRAF4 Complex in Toll-like Receptor 7 Activation.

De Novo PACSIN1 Gene Variant Found in Childhood Lupus and a Role for PACSIN1/TRAF4 Complex in Toll-like Receptor 7 Activation.

Journal: Arthritis & rheumatology (Hoboken, N.J.)

Published: January 13, 2022

Showing 1-12 of 27

Last Updated: 09/26/2026