Publikace
- Array comparative genome hybridization in patients with developmental delay: two example cases2012 | 2. lékařská fakulta, 1. lékařská fakulta, Fakulta tělesné výchovy a sportu
- Two independent chromosomal rearrangements, a very small (550 kb) duplication of the 7q subtelomeric region and an atypical 17q11.2 (NF1) microdeletion, in a girl with neurofibromatosis2007 | 2. lékařská fakulta, 1. lékařská fakulta, Fakulta tělesné výchovy a sportu
- A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 172007 | 2. lékařská fakulta
- Prader-Willi syndrome due to uniparental disomy in a patient with a balanced chromosomal translocation2006 | 2. lékařská fakulta
- 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
- A girl with an inherited central deletion 22q11.21 resulting in DiGeorge syndrome without typical congenital anomalies2019 | 2. lékařská fakulta, Ústřední knihovna
- Mikroduplikační syndrom 16p13.3 u jednovaječných dvojčat s rozdílným fenotypem2019 | 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
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