National Clinical Trials Center

Address:	Palachovo nám. 726/3, 625 00 Brno, Campus Science Park

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Year of publication

Type

Total number of publications: 3

Articles

Aicardi-Goutieres Syndrome Type 6: Case Report and Structural Prediction Supporting a Dominant-Negative Effect of the ADAR1 c.3019G>A Variant

TURAN Kateřina POKORNÁ Petra ŘÍHOVÁ Kamila KUBÁTOVÁ Jana KOŽELKOVÁ Kateřina HLOUŠKOVÁ Eliška DANHOFER Pavlína JABANDŽIEV Petr DAMBORSKÝ Jiří DEMLOVÁ Regina SLABÝ Ondřej SLABÁ Kateřina

Peer-reviewed scientific article

CLINICAL CASE REPORTS, year: 2026, volume: 14, edition: 4, DOI
Early-onset hereditary spastic paraplegia type 56 (SPG56): clinical-molecular correlations and functional validation of CYP2U1 variants

ŠUSTROVÁ Eva ŘÍHOVÁ Kamila POKORNÁ Petra HAVLOVA Veronika STIBOREK Marek ŠIMEK Zdeněk DAMBORSKÝ Jiří HORÁK Ondřej KOŽELKOVÁ Kateřina HLOUŠKOVÁ Eliška DEMLOVÁ Regina KUBÁTOVÁ Jana SLABÝ Ondřej SLABÁ Kateřina

Peer-reviewed scientific article

BMC Medical Genomics, year: 2026, volume: 19, edition: 1, DOI
Health Technology Assessment Guidelines and Recommendations Across European Union Countries and the United Kingdom in Rare Disease and Paediatric Populations

BÁRTOVÁ Adéla SAMEK Jiří PINHEIRO Vera ŘÍHOVÁ Barbora SANTOS Joao Vasco

Peer-reviewed scientific article

APPLIED HEALTH ECONOMICS AND HEALTH POLICY, year: 2026, DOI