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RASopathies
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MUDr. Markéta Havlovicová
Academic staff at Second Faculty of Medicine
95 publications
Publications
publication
Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy
2024 |
Second Faculty of Medicine, First 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
Cluster analysis of facial phenotypes in autism spectrum disorders based on 3D facial models
2023 |
Second Faculty of Medicine, Faculty of Science
publication
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
2023 |
Second Faculty of Medicine
publication
Dermatoglyphic Patterns in Monozygotic Twins with Zimmermann-Laband Syndrome
2023 |
Second Faculty of Medicine
publication
Novel MECR mutation in a Czech patient with childhood-onset dystonia, optic atrophy, and basal ganglia abnormality
2022 |
Second Faculty of Medicine, Faculty of Physical Education and Sport, Centre for Knowledge and Technology Transfer
publication
Co-designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom
2022 |
Second Faculty of Medicine, First Faculty of Medicine
publication
Zimmermann-Laband syndrome in monozygotic twins with a mild neurobehavioral phenotype lacking gingival overgrowth-A case report of a novel KCNN3 gene variant
2022 |
Second Faculty of Medicine
publication
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant
2022 |
Second Faculty of Medicine
publication
The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered
2021 |
Second Faculty of Medicine
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