Publikace
- 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
- 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
- A novel variant of C12orf4 in a consanguineous Armenian family confirms the etiology of autosomal recessive intellectual disability type 66 with delineation of the phenotype2019 | 2. lékařská fakulta, 1. lékařská fakulta
- Teaching a difficult topic using a problem-based concept resembling a computer game: development and evaluation of an e-learning application for medical molecular genetics2019 | 2. lékařská fakulta, Přírodovědecká fakulta
- IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients2019 | 2. lékařská fakulta
- Molecular Cytogenetic Diagnostics of Marker Chromosomes: Analysis in Four Prenatal Cases and Long-Term Clinical Evaluation of Carriers2018 | 2. lékařská fakulta
- FOXP1-related intellectual disability syndrome: a recognisable entity2017 | 2. lékařská fakulta
- Cell-free fetal DNA in maternal plasma during physiological single male pregnancies: Methodology issues and kinetics2008 | 2. lékařská fakulta
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