Publikace
- A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B-related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes2015 | 2. lékařská fakulta, 1. lékařská fakulta
- Chromosome 12q13.13 deletions involving the HOXC gene cluster: Phenotype and candidate genes2013 | 2. lékařská fakulta
- Odor detection threshold, but not odor identification, is impaired in children with autism2011 | 2. lékařská fakulta
- Not EEG abnormalities but epilepsy is associated with autistic regression and mental functioning in childhood autism2004 | 2. lékařská fakulta
- DNA diagnostika syndromu fragilního X chromozomu - fraxa pomocí PCR1998 | 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
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