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Mgr. Miroslava Hančárová Ph.D.
Academic staff at Second Faculty of Medicine
39 publications
Publications
publication
Teaching a difficult topic using a problem-based concept resembling a computer game: development and evaluation of an e-learning application for medical molecular genetics
2019 |
Second Faculty of Medicine, Faculty of Science
publication
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia
2019 |
Second Faculty of Medicine
publication
Molecular Cytogenetic Diagnostics of Marker Chromosomes: Analysis in Four Prenatal Cases and Long-Term Clinical Evaluation of Carriers
2018 |
Second Faculty of Medicine
publication
HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain
2015 |
Second Faculty of Medicine
publication
Array comparative genome hybridization in patients with developmental delay: two example cases
2012 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
2024 |
Second Faculty of Medicine
publication
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders
2024 |
Second Faculty of Medicine
publication
A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype-phenotype correlation
2023 |
Second Faculty of Medicine, First Faculty of Medicine
publication
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities
2021 |
Second Faculty of Medicine, First Faculty of Medicine
publication
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities
2021 |
Second Faculty of Medicine
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