Publikace
- FMR1 Gene Expansion, Large Deletion of Xp, and Skewed X-Inactivation in a Girl With Mental Retardation and Autism2010 | 2. lékařská fakulta
- Highly Unstable Sequence Interruptions of the CTG Repeat in the Myotonic Dystrophy Gene2009 | 2. lékařská fakulta
- Concomitancy of mutation in FRDA gene and FMR1 premutation in 58 year-old woman2005 | 2. lékařská fakulta
- 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
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