Tomas Freiberger

24PUBLICATIONS

147CO-AUTHORS

Cardiology (incl. cardiovascular diseases)HaematologyGene expression (incl. microarray and other genome-wide approaches)Medical molecular engineering of nucleic acids and proteinsInfant and child health

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Publications (24)

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|May 25, 2026

Familial hypercholesterolaemia in children and adolescents: a European Atherosclerosis Society consensus statement.

|May 18, 2026

Homozygous familial hypercholesterolaemia: insights from the Global HICC Registry.

|May 14, 2026

Global survey of genetic testing methods for familial hypercholesterolemia. A study and recommendations from the EAS FHSC registry.

|Oct 27, 2025

Atypical Phenotype of Predominant Autoimmune Cytopenia and Impaired Perforin Expression in XMEN Syndrome.

Hana Grombirikova, Adam Markocsy, Anna Kocurkova

|Jun 27, 2025

Proposal of a Familial Hypercholesterolemia Pediatric Diagnostic Score (FH-PeDS).

Jan Kafol, Beatriz Miranda, Rok Sikonja

|Mar 17, 2025

GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders.

Lauren Rekerle, Daniel Danis, Filip Rehburg

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Frequent Collaborators

Premysl Soucek

Albert Wiegman

Lucie Grodecká

Mafalda Bourbon

Urh Groselj

Hana Grombirikova

Raul D Santos

Jeanine E Roeters van Lennep

2 joint publications

Marina Cuchel

2 joint publications

Pavla Hujová

Frequent Collaborators

Premysl Soucek

Albert Wiegman

Lucie Grodecká

Mafalda Bourbon