Publikace
- The key role of purine metabolism in the folate-dependent phenotype of autism spectrum disorders: An in silico analysis2020 | 2. lékařská fakulta
- Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia2020 | 2. lékařská fakulta
- A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy - case report and review of the literature2018 | 2. lékařská fakulta
- Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring2016 | 2. lékařská fakulta, 1. lékařská fakulta, Lékařská fakulta v Hradci Králové, Fakulta tělesné výchovy a sportu
- Spliceosome malfunction causes neurodevelopmental disorders with overlapping features2024 | 2. lékařská fakulta
- Axenfeld-Rieger syndrome: more than meets the eye2023 | 2. lékařská fakulta, 1. lékařská fakulta
- Long-term anatomical and functional outcomes of surgical treatment of retinal complications in children and adolescents with Stickler syndrome between 2004 and 20212023 | 2. lékařská fakulta
- Co-designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom2022 | 2. lékařská fakulta, 1. lékařská fakulta
- Speech Perception and Production in Cochlear Implant Recipients with Pendred Syndrome2021 | 2. lékařská fakulta, 3. lékařská fakulta, 1. lékařská fakulta
- Sticklerův syndrom v České republice: fenotypová variabilita a genetická heterogenita2021 | 2. lékařská fakulta
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