Martina Putzová

QF-PCR-based prenatal detection of common aneuploidies in the Czech population: Five years of experience

Martina Putzová, I. A. Soldatova, Ľubomíra Pecnová et al. · European Journal of Medical Genetics · 2008 · 59 citations

Genetic Testing, Cytogenetics, Prenatal Genetic Testing +14

Multi-center real-world comparison of the fully automated Idylla™ microsatellite instability assay with routine molecular methods and immunohistochemistry on formalin-fixed paraffin-embedded tissue of colorectal cancer

Ana Velasco, Fatma Tokat, Jesper Bonde et al. · Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin · 2020 · 45 citations · Full text

Parental gonadal but not somatic mosaicism leading to de novo <i>NFIX</i> variants shared by two brothers with Malan syndrome

Miroslava Hančárová, Markéta Havlovičová, Martina Putzová et al. · American Journal of Medical Genetics Part A · 2019 · 22 citations

Genome-wide uniparental diploidy of all paternal chromosomes in an 11-year-old girl with deafness and without malignancy

Irena Borgulová, I. A. Soldatova, Martina Putzová et al. · Journal of Human Genetics · 2018 · 21 citations

Chromatin, Genome-wide Uniparental Diploidy, Mendelian Disorder +11

IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of<i>SLC4A11</i>Variants on Pre-mRNA Splicing

Kristýna Brejchová, Ľubica Ďuďáková, Pavlína Skalická et al. · Investigative Ophthalmology & Visual Science · 2019 · 16 citations · Full text