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List of works by Urh Groselj

A patient with glycogen storage disease type 0 and a novel sequence variant in GYS2: a case report and literature review

scientific article published on 01 August 2020

High-Sensitivity C-Reactive Protein and Carotid Intima Media Thickness as Markers of Subclinical Inflammation and Atherosclerosis in Pediatric Patients with Hypercholesterolemia

scientific article published on 04 November 2020

Hypercholesterolemia in Two Siblings with Resistance to Thyroid Hormones Due to Disease-Causing Variant in Thyroid Hormone Receptor (<i>THRB</i>) Gene

scientific article published on 15 December 2020

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

scientific article published on 21 April 2022

Metabolic control, ApoE genotypes, and dyslipidemia in children, adolescents and young adults with type 1 diabetes

scientific article published on 12 April 2018

Newborn Screening in a Pandemic—Lessons Learned

scientific article published in 2023

Towards a Comprehensive Strategy for the Management of Rare Diseases in Slovenia: Outlining an IT-Enabled Ecosystemic Approach

scientific article published on 29 November 2021

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

scientific article published on 01 October 2018

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