Bertok S - Search Results

1

High frequency of pathogenic ACAN variants including an intragenic deletion in selected individuals with short stature.

Stavber L, Hovnik T, Kotnik P, Lovrečić L, Kovač J, Tesovnik T, Bertok S, Dovč K, Debeljak M, Battelino T, Avbelj Stefanija M. Stavber L, et al. Among authors: bertok s. Eur J Endocrinol. 2020 Mar;182(3):243-253. doi: 10.1530/EJE-19-0771. Eur J Endocrinol. 2020. PMID: 31841439 Free PMC article.

2

Novel Mutations in HESX1 and PROP1 Genes in Combined Pituitary Hormone Deficiency.

Avbelj Stefanija M, Kotnik P, Bratanič N, Žerjav Tanšek M, Bertok S, Bratina N, Battelino T, Trebušak Podkrajšek K. Avbelj Stefanija M, et al. Among authors: bertok s. Horm Res Paediatr. 2015;84(3):153-8. doi: 10.1159/000433468. Epub 2015 Jun 24. Horm Res Paediatr. 2015. PMID: 26111865

3

New Mutations Associated with Rasopathies in a Central European Population and Genotype-Phenotype Correlations.

Čizmárová M, Hlinková K, Bertok S, Kotnik P, Duba HC, Bertalan R, Poločková K, Košťálová Ľ, Pribilincová Z, Hlavatá A, Kovács L, Ilenčíková D. Čizmárová M, et al. Among authors: bertok s. Ann Hum Genet. 2016 Jan;80(1):50-62. doi: 10.1111/ahg.12140. Epub 2015 Nov 26. Ann Hum Genet. 2016. PMID: 26607044

4

A New Case of an Extremely Rare 3p21.31 Interstitial Deletion.

Lovrecic L, Bertok S, Žerjav Tanšek M. Lovrecic L, et al. Among authors: bertok s. Mol Syndromol. 2016 May;7(2):93-8. doi: 10.1159/000445227. Epub 2016 Apr 19. Mol Syndromol. 2016. PMID: 27385966 Free PMC article.

5

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

Bertok S, Žerjav Tanšek M, Kotnik P, Battelino T, Volk M, Pecile V, Cleva L, Gasparini P, Kovač J, Hovnik T. Bertok S, et al. Zdr Varst. 2015 Mar 13;54(2):69-73. doi: 10.1515/sjph-2015-0010. eCollection 2015 Jun. Zdr Varst. 2015. PMID: 27646910 Free PMC article.

6

Childhood Osteoporosis and Presentation of Two Cases with Osteogenesis Imperfecta Type V.

Bratanic N, Dzodan B, Trebusak Podkrajsek K, Bertok S, Ostanek B, Marc J, Battelino T, Avbelj Stefanija M. Bratanic N, et al. Among authors: bertok s. Zdr Varst. 2015 Mar 13;54(2):119-25. doi: 10.1515/sjph-2015-0018. eCollection 2015 Jun. Zdr Varst. 2015. PMID: 27646918 Free PMC article.

7

Characterization of a de novo sSMC 17 detected in a girl with developmental delay and dysmorphic features.

Stavber L, Bertok S, Kovač J, Volk M, Lovrečić L, Battelino T, Hovnik T. Stavber L, et al. Among authors: bertok s. Mol Cytogenet. 2017 Mar 23;10:10. doi: 10.1186/s13039-017-0312-x. eCollection 2017. Mol Cytogenet. 2017. PMID: 28344653 Free PMC article.

8

The association of SCN1A p.Thr1067Ala polymorphism with epilepsy risk and the response to antiepileptic drugs in Slovenian children and adolescents with epilepsy.

Bertok S, Dolžan V, Goričar K, Podkrajšek KT, Battelino T, Rener-Primec Z. Bertok S, et al. Seizure. 2017 Oct;51:9-13. doi: 10.1016/j.seizure.2017.07.007. Epub 2017 Jul 20. Seizure. 2017. PMID: 28753467 Free article.

9

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: bertok s. Clin Biochem. 2018 Feb;52:48-55. doi: 10.1016/j.clinbiochem.2017.10.016. Epub 2017 Oct 27. Clin Biochem. 2018. PMID: 29111448

10

Medium-chain acyl-CoA dehydrogenase deficiency: Two novel ACADM mutations identified in a retrospective screening.

Smon A, Groselj U, Debeljak M, Zerjav Tansek M, Bertok S, Avbelj Stefanija M, Trebusak Podkrajsek K, Battelino T, Repic Lampret B. Smon A, et al. Among authors: bertok s. J Int Med Res. 2018 Apr;46(4):1339-1348. doi: 10.1177/0300060517734123. Epub 2018 Jan 19. J Int Med Res. 2018. PMID: 29350094 Free PMC article.

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