Publications
- Dermatoglyphic Patterns in Monozygotic Twins with Zimmermann-Laband Syndrome2023 | Second Faculty of Medicine
- Zimmermann-Laband syndrome in monozygotic twins with a mild neurobehavioral phenotype lacking gingival overgrowth-A case report of a novel KCNN3 gene variant2022 | Second Faculty of Medicine
- Natural history of KBG syndrome in a large European cohort2022 | Second Faculty of Medicine
- Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant2022 | Second Faculty of Medicine
- A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis2021 | Second Faculty of Medicine
- A girl with an inherited central deletion 22q11.21 resulting in DiGeorge syndrome without typical congenital anomalies2019 | Central Library of Charles University, Second Faculty of Medicine
- A girl with an inherited central deletion 22q11.21 resulting in DiGeorge syndrome without typical congenital anomaliesPublication without faculty affiliation
- Molecular genetic cause of non-syndromic congenital and juvenile cataracts in the Czech populationPublication without faculty affiliation
- Solve-RD: the ITHACA perspectivePublication without faculty affiliation
- Genetic heterogeneity of megacystis-microcolon-intestinal hypoperistalsis syndromePublication without faculty affiliation
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