Kovač J - Search Results

1

The possible influence of genetic aetiological factors on molar-incisor hypomineralisation.

Hočevar L, Kovač J, Podkrajšek KT, Battelino S, Pavlič A. Hočevar L, et al. Among authors: kovac j. Arch Oral Biol. 2020 Oct;118:104848. doi: 10.1016/j.archoralbio.2020.104848. Epub 2020 Aug 7. Arch Oral Biol. 2020. PMID: 32777581 Free article.

2

Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene.

Groselj U, Tansek MZ, Kovac J, Hovnik T, Podkrajsek KT, Battelino T. Groselj U, et al. Among authors: kovac j. Mol Genet Metab. 2012 Jun;106(2):142-8. doi: 10.1016/j.ymgme.2012.03.015. Epub 2012 Apr 1. Mol Genet Metab. 2012. PMID: 22513348

3

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

Hovnik T, Bratanič N, Podkrajšek KT, Kovač J, Paro D, Podnar T, Bratina N, Battelino T. Hovnik T, et al. Among authors: kovac j. Eur J Pediatr. 2013 Aug;172(8):1125-9. doi: 10.1007/s00431-012-1901-7. Epub 2012 Dec 11. Eur J Pediatr. 2013. PMID: 23229189

4

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

Kovač J, Podkrajšek KT, Lukšič MM, Battelino T. Kovač J, et al. Eur Child Adolesc Psychiatry. 2015 Jan;24(1):75-82. doi: 10.1007/s00787-014-0537-8. Epub 2014 Mar 27. Eur Child Adolesc Psychiatry. 2015. PMID: 24671236

5

TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss.

Battelino S, Klancar G, Kovac J, Battelino T, Trebusak Podkrajsek K. Battelino S, et al. Among authors: kovac j. Eur Arch Otorhinolaryngol. 2016 May;273(5):1151-4. doi: 10.1007/s00405-015-3671-0. Epub 2015 Jun 3. Eur Arch Otorhinolaryngol. 2016. PMID: 26036852

6

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.

Kovač J, Klančar G, Trebušak Podkrajšek K, Battelino S. Kovač J, et al. Front Genet. 2017 Jun 30;8:95. doi: 10.3389/fgene.2017.00095. eCollection 2017. Front Genet. 2017. PMID: 28713423 Free PMC article.

7

Universal screening for familial hypercholesterolemia in children: The Slovenian model and literature review.

Groselj U, Kovac J, Sustar U, Mlinaric M, Fras Z, Podkrajsek KT, Battelino T. Groselj U, et al. Among authors: kovac j. Atherosclerosis. 2018 Oct;277:383-391. doi: 10.1016/j.atherosclerosis.2018.06.858. Atherosclerosis. 2018. PMID: 30270075 Review.

8

Dataset on amelogenesis-related genes variants (ENAM and ENAM interacting genes) and on human leukocyte antigen alleles (DQ2 and DQ8) distribution in children with and without molar-incisor hypomineralisation (MIH).

Hočevar L, Kovač J, Podkrajšek KT, Battelino S, Pavlič A. Hočevar L, et al. Among authors: kovac j. Data Brief. 2020 Aug 25;32:106224. doi: 10.1016/j.dib.2020.106224. eCollection 2020 Oct. Data Brief. 2020. PMID: 32944598 Free PMC article.

The distributions of SNPs in the amelogenesis-related genes were determined using high resolution melting (HRM) using the Type-IT HRM Master Mix (Qiagen), TaqMan genotyping assays (ID: C__25766207_10; Thermo Fisher Scientific, Waltham, MA, USA) with the TaqMan Universal Master Mi …

The distributions of SNPs in the amelogenesis-related genes were determined using high resolution melting (HRM) using the Type-IT HRM Master …

9

Does intervention with GLP-1 receptor agonist semaglutide modulate perception of sweet taste in women with obesity: study protocol of a randomized, single-blinded, placebo-controlled clinical trial.

Jensterle M, Ferjan S, Battelino T, Kovač J, Battelino S, Šuput D, Vovk A, Janež A. Jensterle M, et al. Among authors: kovac j. Trials. 2021 Jul 19;22(1):464. doi: 10.1186/s13063-021-05442-y. Trials. 2021. PMID: 34281590 Free PMC article.

10

An Intron c.103-3T>C Variant of the AMELX Gene Causes Combined Hypomineralized and Hypoplastic Type of Amelogenesis Imperfecta: Case Series and Review of the Literature.

Leban T, Trebušak Podkrajšek K, Kovač J, Fidler A, Pavlič A. Leban T, et al. Among authors: kovac j. Genes (Basel). 2022 Jul 18;13(7):1272. doi: 10.3390/genes13071272. Genes (Basel). 2022. PMID: 35886055 Free PMC article.

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