ℹ️
🇬🇧
Search
Search for people relevant for "collaborative analysis"
collaborative analysis
Person
Class
Person
Publication
Programmes
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
Load more publications (85)
Loading network view...