RNDr. Iveta Valášková, Ph.D.
Assistant professor, Institute of Medical Genetics and Genomics
Phone: | +420 532 23 4718 |
---|---|
E‑mail: |
social and academic networks: |
---|
Total number of publications: 73
2023
-
20 let diagnostiky maligní hypertermie v České a Slovenské republice.
ANESTEZIOLOGIE A INTENZIVNI MEDICINA, year: 2023, volume: 34, edition: 3, DOI
2021
-
Long-QT founder variant T309I-Kv7.1 with dominant negative pattern may predispose delayed afterdepolarizations under β-adrenergic stimulation
Nature Scientific Reports, year: 2021, volume: 11, edition: 1, DOI
-
Molekulárně-genetická diagnostika hereditární hemoragické teleangiektázie.
Year: 2021, type: Conference abstract
2020
-
Next generation sequencing in newborn screening for cystic fibrosis
Year: 2020, type: Conference abstract
-
Organoids as a personalized medicine tool for ultra-rare mutations in cystic fibrosis: The case of S955P and 1717-2A > G
Biochimica et Biophysica Acta - Molecular Basis of Disease, year: 2020, volume: 1866, edition: 11, DOI
2019
-
Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype
Human Genetics, year: 2019, volume: 138, edition: 11-12, DOI
-
Dystrophin Deficiency Leads to Genomic Instability in Human Pluripotent Stem Cells via NO Synthase-Induced Oxidative Stress
Cells, year: 2019, volume: 8, edition: 1, DOI
-
Generation of two Duchenne muscular dystrophy patient-specific induced pluripotent stem cell lines DMD02 and DMD03 (MUNIi001-A and MUNIi003-A)
STEM CELL RESEARCH, year: 2019, volume: 40, edition: OCT 2019, DOI
-
Molecular analysis confirmed common ancestor of 10 Czech families with long QT syndrome carrying C926T-KCNQ1 variant
Year: 2019, type: Conference abstract
-
Mutace T309I asociovaná se syndromem dlouhého QT typu 1: akumulace IKs jako mechanismus ochrany srdce proti arytmii
Year: 2019, type: Conference abstract