Ivona Blaháková

Identification and characterization of large deletions in the phenylalanine hydroxylase (PAH) gene by MLPA: Evidence for both homologous and non-homologous mechanisms of rearrangement

Libor Kozák, Eva Hrabincová, Jaromir Kintr et al. · Molecular Genetics and Metabolism · 2006 · 35 citations

Cellular Enzymology, Biochemistry, Natural Sciences +7

A patient with Smith–Lemli–Opitz syndrome: novel mutation of the DHCR7 gene and effects of therapy with simvastatin and cholesterol supplement

Gabriella P. Szabó, Anna V. Oláh, Libor Kozák et al. · European Journal of Pediatrics · 2009 · 27 citations

Oxysterol, Cardiovascular Disease, Cholesterol Supplement +4

Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: a case report

Martina Doubková, Jakub Trizuljak, Zuzana Vrzalová et al. · BMC Pulmonary Medicine · 2019 · 14 citations · Full text

Complex analysis of the p53 tumor suppressor in lung carcinoma

Jana Šmardová, Květoslava Lišková, Barbora Ravčuková et al. · Oncology Reports · 2015 · 13 citations · Full text

Diagnosis of Bloom Syndrome in a Patient with Short Stature, Recurrence of Malignant Lymphoma, and Consanguineous Origin

Jakub Trizuljak, Terezie Petruchová, Ivona Blaháková et al. · Molecular Syndromology · 2020 · 10 citations · Full text