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List of works by Jernej Kovač

Circulating levels of miR-122 and nonalcoholic fatty liver disease in pre-pubertal obese children

scientific article published on 22 December 2017

Clinical and Molecular Cytogenetic Characterisation of Children with Developmental Delay and Dysmorphic Features

scientific article published on 13 March 2015

Comparison of tandem mass spectrometry and amino acid analyzer for phenylalanine and tyrosine monitoring--implications for clinical management of patients with hyperphenylalaninemia

scientific article published on 28 September 2014

Cytogenetic and Molecular Genetic Characterization of Children with Short Stature

scientific article

DEPTOR promoter genetic variants and insulin resistance in obese children and adolescents

scientific article

Discovering the Unexpected with the Utilization of NGS in Diagnostics of Non-syndromic Hearing Loss Disorders: The Family Case of ILDR1-Dependent Hearing Loss Disorder

scientific article

Focused peptide library screening as a route to a superior affinity ligand for antibody purification

scientific article published on 02 June 2021

GPR143Gene Mutation Analysis In Pediatric Patients With Albinism

article

Identification of novel alleles associated with insulin resistance in childhood obesity using pooled-DNA genome-wide association study approach

scientific article

Long-Term Follow-Up of Three Family Members with a Novel NNT Pathogenic Variant Causing Primary Adrenal Insufficiency

scientific article published on 21 April 2022

Multifocal gastric adenocarcinoma in a patient with LRBA deficiency.

scientific article

Next generation sequencing as a follow-up test in an expanded newborn screening programme.

scientific article published on 27 October 2017

Rare single nucleotide polymorphisms in the regulatory regions of the superoxide dismutase genes in autism spectrum disorder

scientific article published on 23 October 2013

Severe progressive obstructive cardiomyopathy and renal tubular dysfunction in Donohue syndrome with decreased insulin receptor autophosphorylation due to a novel INSR mutation

scientific article

Specific and global coagulation tests in patients with mild haemophilia A with a double mutation (Glu113Asp, Arg593Cys).

scientific article

Universal Screening for Familial Hypercholesterolemia in Children

scientific article published on September 2015

Weak association of glyoxalase 1 (GLO1) variants with autism spectrum disorder

scientific article published on 27 March 2014

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