Publikace
- Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy2024 | 2. lékařská fakulta, 1. lékařská fakulta
- A unique coincidence of a 17q12 deletion and duplication in a Czech family led to a refined genotype–phenotype correlation2023 | 2. lékařská fakulta
- Both 17q12 duplication and deletion detected in the patient with normal phenotype and their segregation in family with variably affected members2020 | 2. lékařská fakulta
- Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly2018 | 2. lékařská fakulta, 1. lékařská fakulta
- A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy - case report and review of the literature2018 | 2. lékařská fakulta
- Kardiogenetika očima cytogenetika - submikroskopické aberace u pacientů s vrozenými srdečními vadami2018 | 2. lékařská fakulta
- Fanconiho anémie, komplementační skupina D1 v důsledku bialelické mutace genu BRCA2 - kazuistika2016 | 2. lékařská fakulta
- A 15 Mb large paracentric chromosome 21 inversion identified in Czech population through a pair of flanking duplications2014 | 2. lékařská fakulta
- 45,X/46,X,psu dic(Y) Gonadal Dysgenesis: Influence of the Two Cell Lines on the Clinical Phenotype, Including Gonadal Histology2013 | 2. lékařská fakulta
- Array comparative genome hybridization in patients with developmental delay: two example cases2012 | 2. lékařská fakulta, 1. lékařská fakulta, Fakulta tělesné výchovy a sportu
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