Ivona Blaháková

Publications that are part of the Web of Science database, possibly also other publications chosen by authors.

2020

• Trizuljak, J; Petruchova, T; Blahakova, I; Vrzalova, Z; Horinova, V; Doubkova, M; Michalka, J; Mayer, J; Pospisilova, S; Doubek, M, 2020: Diagnosis of Bloom Syndrome in a Patient with Short Stature, Recurrence of Malignant Lymphoma, and Consanguineous Origin. MOLECULAR SYNDROMOLOGY 11(2), p. 73 - 82, doi: 10.1159/000507006

2019

• Trizuljak, J; Doubkova, M; Hrazdirova, A; Vrzalova, Z; Blahakova, I; Radova, L; Pospisilova, S; Doubek, M, 2019: A rare diagnosis: Hermansky-Pudlak syndrome in a patient with pulmonary fibrosis, oculocutaneous albinism and thrombocytopathy. EUROPEAN JOURNAL OF HUMAN GENETICS 27, p. 1252 - 1252
• Doubkova, M; Trizuljak, J; Vrzalova, Z; Hrazdirova, A; Blahakova, I; Radova, L; Pospisilova, S; Doubek, M, 2019: Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: a case report. BMC PULMONARY MEDICINE 19(1), doi: 10.1186/s12890-019-0941-4

2016

• Smardova, J; Liskova, K; Ravcukova, B; Malcikova, J; Hausnerova, J; Svitakova, M; Hrabalkova, R; Zlamalikova, L; Stano-Kozubik, K; Blahakova, I; Speldova, J; Jarkovsky, J; Smarda, J, 2016: Complex analysis of the p53 tumor suppressor in lung carcinoma. ONCOLOGY REPORTS 35(3), p. 1859 - 1867, doi: 10.3892/or.2015.4533