Publikace
- 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
- Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy2021 | 2. lékařská fakulta
- Severe paroxysmal dyskinesias without epilepsy in a RHOBTB2 mutation carrier2020 | 2. lékařská fakulta, 1. lékařská fakulta
- De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome2020 | 2. lékařská fakulta
- Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders2020 | 2. lékařská fakulta
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