RNDr. Iveta Valášková, Ph.D.
Assistant professor, Institute of Medical Genetics and Genomics
| phone: | +420 532 23 4718 |
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Total number of publications: 77
2024
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Digital PCR in non-invasive prenatal testing
Year: 2024, type: Appeared in Conference without Proceedings
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Methods for Rapid and Simple Non‐Invasive PrenatalTesting (NIPT): Diagnosis of Achondroplasia
Year: 2024, type: Conference abstract
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Non‐invasive prenatal screening fortrisomy 21 and 18 using digital PCR
Year: 2024, type: Conference abstract
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P15.083.D Pilot project: Neonatal screening using genomic methods
Year: 2024, type: Conference abstract
2023
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20 let diagnostiky maligní hypertermie v České a Slovenské republice.
ANESTEZIOLOGIE A INTENZIVNI MEDICINA, year: 2023, volume: 34, edition: 3, DOI
2021
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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
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Molekulárně-genetická diagnostika hereditární hemoragické teleangiektázie.
Year: 2021, type: Conference abstract
2020
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Next generation sequencing in newborn screening for cystic fibrosis
Year: 2020, type: Conference abstract
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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
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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