Publications
- A unique coincidence of a 17q12 deletion and duplication in a Czech family led to a refined genotype–phenotype correlation2023 | Second Faculty of Medicine
- Both 17q12 duplication and deletion detected in the patient with normal phenotype and their segregation in family with variably affected members2020 | Second Faculty of Medicine
- Fanconi anemia with biallelic FANCD1/BRCA2 mutations - Case report of a family with three affected children2016 | Second Faculty of Medicine
- Early development of immunity in diGeorge syndrome2005 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- Age-dependent changes of immune parameters in children with Di-George syndrome2001 | Second Faculty of Medicine, Central Library of Charles University
- Complex chromosomal rearrangement in the boy from the high-risk pregnancy - case reportPublication without faculty affiliation
- CNVs in patients with epilepsy - Czech experiencePublication without faculty affiliation
- Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy2024 | Second Faculty of Medicine, First Faculty of Medicine
- A girl with an inherited central deletion 22q11.21 resulting in DiGeorge syndrome without typical congenital anomalies2019 | Second Faculty of Medicine, Central Library of Charles University
- Mikroduplikační syndrom 16p13.3 u jednovaječných dvojčat s rozdílným fenotypem2019 | Second Faculty of Medicine
Loading network view...
