Publikace
- De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia2019 | 2. lékařská fakulta
- De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay2018 | 2. lékařská fakulta, 1. lékařská fakulta
- Monozygotic Twins with 17q21.31 Microdeletion Syndrome2014 | 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
- A high frequency of the Cystic Fibrosis 2184insA mutation in Western Ukraine: Genotype-phenotype correlations, relevance for newborn screening and genetic testing2010 | 2. lékařská fakulta
- Spliceosome malfunction causes neurodevelopmental disorders with overlapping features2024 | 2. lékařská fakulta
- Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders2024 | 2. lékařská fakulta
- A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype-phenotype correlation2023 | 2. lékařská fakulta, 1. lékařská fakulta
- Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities2021 | 2. lékařská fakulta, 1. lékařská fakulta
- Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities2021 | 2. lékařská fakulta
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