Nadja Vokac-Kokalj

Maribor, 2000, Slovenia

Last Updated: 09/26/2026

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Found 21 publications

The Role of Next-Generation Sequencing in the Management of Asymptomatic, Young Slovenian Athletes for Distinction Between Athlete's Heart and Cardiomyopathy.

The Role of Next-Generation Sequencing in the Management of Asymptomatic, Young Slovenian Athletes for Distinction Between Athlete's Heart and Cardiomyopathy.

Journal: Biomedicines

Published: May 25, 2026

Resolving Diagnostic Uncertainty in Neurodevelopmental Disorders Using Exome Sequencing Supported by Literature-Based Multi-Omics Evidence.

Resolving Diagnostic Uncertainty in Neurodevelopmental Disorders Using Exome Sequencing Supported by Literature-Based Multi-Omics Evidence.

Journal: Biomolecules

Published: January 21, 2026

Case Report: Rare triple-line chromosome 9 mosaicism (47,XX,+del(9)(q13)/47,XX,+9/46,XX) associated with severe neurodevelopmental impairment and congenital anomalies.

Case Report: Rare triple-line chromosome 9 mosaicism (47,XX,+del(9)(q13)/47,XX,+9/46,XX) associated with severe neurodevelopmental impairment and congenital anomalies.

Journal: Frontiers in genetics

Published: December 17, 2025

Genome-wide copy-number analysis improves detection of pathogenic AZFc and autosomal variants in idiopathic non-obstructive azoospermia.

Genome-wide copy-number analysis improves detection of pathogenic AZFc and autosomal variants in idiopathic non-obstructive azoospermia.

Journal: Molecular cytogenetics

Published: December 02, 2025

The Role of Next-Generation Sequencing in the Management of Patients with Suspected Non-Ischemic Cardiomyopathy after Syncope or Termination of Sudden Arrhythmic Death.

The Role of Next-Generation Sequencing in the Management of Patients with Suspected Non-Ischemic Cardiomyopathy after Syncope or Termination of Sudden Arrhythmic Death.

Journal: Genes

Published: November 24, 2023

Identification of potentially pathogenic variants for autism spectrum disorders using gene-burden analysis.

Identification of potentially pathogenic variants for autism spectrum disorders using gene-burden analysis.

Journal: PloS one

Published: August 17, 2022

Impaired Neurodevelopmental Genes in Slovenian Autistic Children Elucidate the Comorbidity of Autism With Other Developmental Disorders.

Impaired Neurodevelopmental Genes in Slovenian Autistic Children Elucidate the Comorbidity of Autism With Other Developmental Disorders.

Journal: Frontiers in molecular neuroscience

Published: April 04, 2022

Clinical Evaluation of Two Non-Invasive Genetic Tests for Detection and Monitoring of Urothelial Carcinoma: Validation of UroVysion and Xpert Bladder Cancer Detection Test.

Clinical Evaluation of Two Non-Invasive Genetic Tests for Detection and Monitoring of Urothelial Carcinoma: Validation of UroVysion and Xpert Bladder Cancer Detection Test.

Journal: Frontiers in genetics

Published: December 20, 2021

CNVs and Chromosomal Aneuploidy in Patients With Early-Onset Schizophrenia and Bipolar Disorder: Genotype-Phenotype Associations.

CNVs and Chromosomal Aneuploidy in Patients With Early-Onset Schizophrenia and Bipolar Disorder: Genotype-Phenotype Associations.

Journal: Frontiers in psychiatry

Published: September 14, 2020

Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar.

Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar.

Journal: Human mutation

Published: May 01, 2018

Rare structural variants in the DOCK8 gene identified in a cohort of 439 patients with neurodevelopmental disorders.

Rare structural variants in the DOCK8 gene identified in a cohort of 439 patients with neurodevelopmental disorders.

Journal: Scientific reports

Published: April 04, 2018

A mosaic form of microphthalmia with linear skin defects.

A mosaic form of microphthalmia with linear skin defects.

Journal: BMC pediatrics

Published: August 29, 2017

Showing 1-12 of 21

Last Updated: 09/26/2026