Avbelj Stefanija M - Search Results

1

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

Krasovec T, Sikonja J, Zerjav Tansek M, Debeljak M, Ilovar S, Trebusak Podkrajsek K, Bertok S, Tesovnik T, Kovac J, Suput Omladic J, Hartmann MF, Wudy SA, Avbelj Stefanija M, Battelino T, Kotnik P, Groselj U. Krasovec T, et al. Among authors: avbelj stefanija m. Genes (Basel). 2022 Apr 20;13(5):717. doi: 10.3390/genes13050717. Genes (Basel). 2022. PMID: 35627102 Free PMC article.

2

Decreased prevalence of hypercholesterolaemia and stabilisation of obesity trends in 5-year-old children: possible effects of changed public health policies.

Sedej K, Kotnik P, Avbelj Stefanija M, Grošelj U, Širca Čampa A, Lusa L, Battelino T, Bratina N. Sedej K, et al. Among authors: avbelj stefanija m. Eur J Endocrinol. 2014 Feb 1;170(2):293-300. doi: 10.1530/EJE-13-0566. Print 2014 Feb. Eur J Endocrinol. 2014. PMID: 24225029

3

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. Horm Res Paediatr. 2015;84(3):153-8. doi: 10.1159/000433468. Epub 2015 Jun 24. Horm Res Paediatr. 2015. PMID: 26111865

4

Clinical, Genetic and Immunological Characteristics of Paediatric Autoimmune Polyglandular Syndrome Type 1 Patients in Slovenia.

Bratanic N, Kisand K, Avbelj Stefanija M, Battelino T, Trebusak Podkrajsek K. Bratanic N, et al. Among authors: avbelj stefanija m. Zdr Varst. 2015 Mar 13;54(2):112-8. doi: 10.1515/sjph-2015-0017. eCollection 2015 Jun. Zdr Varst. 2015. PMID: 27646917 Free PMC article.

5

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: avbelj stefanija m. 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.

6

Multifocal gastric adenocarcinoma in a patient with LRBA deficiency.

Bratanič N, Kovač J, Pohar K, Trebušak Podkrajšek K, Ihan A, Battelino T, Avbelj Stefanija M. Bratanič N, et al. Among authors: avbelj stefanija m. Orphanet J Rare Dis. 2017 Jul 18;12(1):131. doi: 10.1186/s13023-017-0682-5. Orphanet J Rare Dis. 2017. PMID: 28720148 Free PMC article.

7

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: avbelj stefanija m. 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.

8

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: avbelj stefanija m. Eur J Endocrinol. 2020 Mar;182(3):243-253. doi: 10.1530/EJE-19-0771. Eur J Endocrinol. 2020. PMID: 31841439 Free PMC article.

9

Acute Hyperglycemia and Spatial Working Memory in Adolescents With Type 1 Diabetes.

Šuput Omladič J, Slana Ozimič A, Vovk A, Šuput D, Repovš G, Dovc K, Bratina N, Avbelj Stefanija M, Battelino T. Šuput Omladič J, et al. Among authors: avbelj stefanija m. Diabetes Care. 2020 Aug;43(8):1941-1944. doi: 10.2337/dc20-0171. Epub 2020 May 29. Diabetes Care. 2020. PMID: 32471909 Free PMC article. Clinical Trial.

10

Anthropometry and bone mineral density in treated and untreated hyperphenylalaninemia.

Zerjav Tansek M, Bertoncel A, Sebez B, Zibert J, Groselj U, Battelino T, Avbelj Stefanija M. Zerjav Tansek M, et al. Among authors: avbelj stefanija m. Endocr Connect. 2020 Jul;9(7):649-657. doi: 10.1530/EC-20-0214. Endocr Connect. 2020. PMID: 32520722 Free PMC article.

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