Publikace
- Two types of recessive hereditary spastic paraplegia in Roma patients in compound heterozygous state; no ethnically prevalent variant found2020 | 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
- Association of 17q24.2-q24.3 deletions with recognizable phenotype and short telomeres2018 | 2. lékařská fakulta
- Kardiogenetika očima cytogenetika - submikroskopické aberace u pacientů s vrozenými srdečními vadami2018 | 2. lékařská fakulta
- Long Term Follow-Up in a Patient with a De Novo Microdeletion of 14q11.2 Involving CHD82015 | 2. lékařská fakulta
- Deletions of 9q21.3 Including NTRK2 Are Associated With Severe Phenotype2015 | 2. lékařská fakulta
- Monozygotic Twins with 17q21.31 Microdeletion Syndrome2014 | 2. lékařská fakulta, 1. lékařská fakulta, Fakulta tělesné výchovy a sportu
- 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 | 2. lékařská fakulta, 1. lékařská fakulta, Fakulta tělesné výchovy a sportu
- A patient with de novo 0.45Mb deletion of 2p16.1: The role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndrome2013 | 2. lékařská fakulta
- Chromosome 12q13.13 deletions involving the HOXC gene cluster: Phenotype and candidate genes2013 | 2. lékařská fakulta
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