Tinka Hovnik - Search Results

Year	Number of Results
2008	1
2009	1
2010	1
2011	1
2012	3
2013	1
2015	4
2016	3
2017	1
2018	2
2019	1
2021	2
2022	3
2023	1
2024	0

1

Heterozygous NPR2 Variants in Idiopathic Short Stature.

Stavber L, Gaia MJ, Hovnik T, Jenko Bizjan B, Debeljak M, Kovač J, Omladič JŠ, Battelino T, Kotnik P, Dovč K. Stavber L, et al. Among authors: hovnik t. Genes (Basel). 2022 Jun 15;13(6):1065. doi: 10.3390/genes13061065. Genes (Basel). 2022. PMID: 35741827 Free PMC article.

2

An Adolescent Boy with Klinefelter Syndrome and 47,XXY/46,XX Mosaicism: Case Report and Review of Literature.

Hovnik T, Zitnik E, Avbelj Stefanija M, Bertok S, Sedej K, Bancic Silva V, Battelino T, Groselj U. Hovnik T, et al. Genes (Basel). 2022 Apr 23;13(5):744. doi: 10.3390/genes13050744. Genes (Basel). 2022. PMID: 35627128 Free PMC article. Review.

3

Genetic Variability in Slovenian Cohort of Patients with Oculocutaneous Albinism.

Hovnik T, Debeljak M, Tekavčič Pompe M, Bertok S, Battelino T, Stirn Kranjc B, Trebušak Podkrajšek K. Hovnik T, et al. Acta Chim Slov. 2021 Sep;68(3):683-692. Acta Chim Slov. 2021. PMID: 34897530

4

11q terminal deletion and combined immunodeficiency (Jacobsen syndrome): Case report and literature review on immunodeficiency in Jacobsen syndrome.

Blazina Š, Ihan A, Lovrečić L, Hovnik T. Blazina Š, et al. Among authors: hovnik t. Am J Med Genet A. 2016 Dec;170(12):3237-3240. doi: 10.1002/ajmg.a.37859. Epub 2016 Sep 8. Am J Med Genet A. 2016. PMID: 27605496 Review.

5

Early Discovery of Children With Lysosomal Acid Lipase Deficiency With the Universal Familial Hypercholesterolemia Screening Program.

Sustar U, Groselj U, Trebusak Podkrajsek K, Mlinaric M, Kovac J, Thaler M, Drole Torkar A, Skarlovnik A, Battelino T, Hovnik T. Sustar U, et al. Among authors: hovnik t. Front Genet. 2022 Jul 12;13:936121. doi: 10.3389/fgene.2022.936121. eCollection 2022. Front Genet. 2022. PMID: 35903350 Free PMC article.

6

Association of Glycemic Control and Cell Stress With Telomere Attrition in Type 1 Diabetes.

Tesovnik T, Kovac J, Hovnik T, Dovc K, Bratina N, Battelino T, Trebušak Podkrajšek K. Tesovnik T, et al. Among authors: hovnik t. JAMA Pediatr. 2018 Sep 1;172(9):879-881. doi: 10.1001/jamapediatrics.2018.1175. JAMA Pediatr. 2018. PMID: 29931032 Free PMC article.

7

Detection of Del/Dup Inside SHOX/PAR1 Region in Children and Young Adults with Idiopathic Short Stature.

Stritar J, Stavber L, Ficko M, Kotnik P, Battelino T, Trebušak Podkrajšek K, Hovnik T. Stritar J, et al. Among authors: hovnik t. Genes (Basel). 2021 Sep 29;12(10):1546. doi: 10.3390/genes12101546. Genes (Basel). 2021. PMID: 34680940 Free PMC article.

8

Neonatal Cyanosis Due to Hemoglobin Variant: Hb F-Sarajevo.

Lozar-Krivec J, Stepic M, Hovnik T, Krsnik M, Paro-Panjan D. Lozar-Krivec J, et al. Among authors: hovnik t. J Pediatr Hematol Oncol. 2016 Oct;38(7):e267-70. doi: 10.1097/MPH.0000000000000655. J Pediatr Hematol Oncol. 2016. PMID: 27571121

9

A Comprehensive Genetic Analysis of Slovenian Families with Multiple Cases of Orofacial Clefts Reveals Novel Variants in the Genes IRF6, GRHL3, and TBX22.

Slavec L, Geršak K, Eberlinc A, Hovnik T, Lovrečić L, Mlinarič-Raščan I, Karas Kuželički N. Slavec L, et al. Among authors: hovnik t. Int J Mol Sci. 2023 Feb 21;24(5):4262. doi: 10.3390/ijms24054262. Int J Mol Sci. 2023. PMID: 36901693 Free PMC article.

10

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: hovnik t. Ophthalmic Genet. 2012 Sep;33(3):167-70. doi: 10.3109/13816810.2011.559651. Epub 2012 Apr 9. Ophthalmic Genet. 2012. PMID: 22486324

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