Kovac J - Search Results

1

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

Smon A, Repic Lampret B, Groselj U, Zerjav Tansek M, Kovac J, Perko D, Bertok S, Battelino T, Trebusak Podkrajsek K. Smon A, et al. Among authors: kovac j. Clin Biochem. 2018 Feb;52:48-55. doi: 10.1016/j.clinbiochem.2017.10.016. Epub 2017 Oct 27. Clin Biochem. 2018. PMID: 29111448

2

GPR143 gene mutation analysis in pediatric patients with albinism.

Trebušak Podkrajšek K, Stirn Kranjc B, Hovnik T, Kovač J, Battelino T. Trebušak Podkrajšek K, et al. Among authors: kovac j. Ophthalmic Genet. 2012 Sep;33(3):167-70. doi: 10.3109/13816810.2011.559651. Epub 2012 Apr 9. Ophthalmic Genet. 2012. PMID: 22486324

3

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

4

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

5

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

Kovač J, Macedoni Lukšič M, Trebušak Podkrajšek K, Klančar G, Battelino T. Kovač J, et al. Autism Res. 2014 Feb;7(1):138-44. doi: 10.1002/aur.1345. Epub 2013 Oct 23. Autism Res. 2014. PMID: 24155217

6

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

7

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

Groselj U, Murko S, Zerjav Tansek M, Kovac J, Trampus Bakija A, Repic Lampret B, Battelino T. Groselj U, et al. Among authors: kovac j. Clin Biochem. 2015 Jan;48(1-2):14-8. doi: 10.1016/j.clinbiochem.2014.09.014. Epub 2014 Sep 28. Clin Biochem. 2015. PMID: 25261586

8

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

9

Universal Screening for Familial Hypercholesterolemia in Children.

Klančar G, Grošelj U, Kovač J, Bratanič N, Bratina N, Trebušak Podkrajšek K, Battelino T. Klančar G, et al. Among authors: kovac j. J Am Coll Cardiol. 2015 Sep 15;66(11):1250-1257. doi: 10.1016/j.jacc.2015.07.017. J Am Coll Cardiol. 2015. PMID: 26361156 Free article.

10

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

Kovač J, Šutuš Temovski T, Rozmarič T, Horvat S, Beltram J, Trebušak Podkrajšek K, Battelino T, Kotnik P. Kovač J, et al. Pediatr Diabetes. 2017 Mar;18(2):152-158. doi: 10.1111/pedi.12371. Epub 2016 Feb 12. Pediatr Diabetes. 2017. PMID: 26871578

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