Publikace
- Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype2018 | 2. lékařská fakulta
- 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
- Monozygotní dvojčata s Legius syndromem a diferenciální diagnostika Legius syndromu a neurofibromatózy typ 12021 | 2. lékařská fakulta
- Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases2021 | 2. lékařská fakulta
- Solving unsolved rare neurological diseases-a Solve-RD viewpoint2021 | 2. lékařská fakulta
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