Publikace
- Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy2021 | 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
- Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects2020 | 2. lékařská fakulta
- Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly2018 | 1. lékařská fakulta, 2. lékařská fakulta
- Deletions of 9q21.3 Including NTRK2 Are Associated With Severe Phenotype2015 | 2. lékařská fakulta
- BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations2015 | 2. lékařská fakulta
- Monozygotic Twins with 17q21.31 Microdeletion Syndrome2014 | 1. lékařská fakulta, Fakulta tělesné výchovy a sportu, 2. lékařská fakulta
- Identification of a patient with intellectual disability and de novo 3.7 Mb deletion supports the existence of a novel microdeletion syndrome in 2p14-p152013 | 1. lékařská fakulta, Fakulta tělesné výchovy a sportu, 2. lékařská fakulta
- Array comparative genome hybridization in patients with developmental delay: two example cases2012 | 1. lékařská fakulta, Fakulta tělesné výchovy a sportu, 2. lékařská fakulta
- Skin Lesions in a Boy With X-linked Lymphoproliferative Disorder: Comparison of 5 SH2D1A Deletion Cases2012 | 2. lékařská fakulta
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