Publikace
- Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy2024 | 2. lékařská fakulta, 1. lékařská fakulta
- Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders2024 | 2. lékařská fakulta
- Cluster analysis of facial phenotypes in autism spectrum disorders based on 3D facial models2023 | 2. lékařská fakulta, Přírodovědecká fakulta
- A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing2023 | 2. lékařská fakulta
- Dermatoglyphic Patterns in Monozygotic Twins with Zimmermann-Laband Syndrome2023 | 2. lékařská fakulta
- Novel MECR mutation in a Czech patient with childhood-onset dystonia, optic atrophy, and basal ganglia abnormality2022 | 2. lékařská fakulta, Fakulta tělesné výchovy a sportu, Centrum pro přenos poznatků a technologií
- Co-designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom2022 | 2. lékařská fakulta, 1. lékařská fakulta
- Zimmermann-Laband syndrome in monozygotic twins with a mild neurobehavioral phenotype lacking gingival overgrowth-A case report of a novel KCNN3 gene variant2022 | 2. lékařská fakulta
- Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant2022 | 2. lékařská fakulta
- The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered2021 | 2. lékařská fakulta
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