Publikace
- 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
- 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
- Sticklerův syndrom v České republice: fenotypová variabilita a genetická heterogenita2021 | 2. lékařská fakulta
- Solving unsolved rare neurological diseases-a Solve-RD viewpoint2021 | 2. lékařská fakulta
- Solving patients with rare diseases through programmatic reanalysis of genome-phenome data2021 | 2. lékařská fakulta
- Hereditary hyperferritinemia-cataract syndrome in three Czech families: molecular genetic testing and clinical implications2020 | 2. lékařská fakulta, 1. lékařská fakulta
- The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages2019 | 2. lékařská fakulta
- SD-OCT imaging as a valuable tool to support molecular genetic diagnostics of Usher syndrome type 12018 | 2. lékařská fakulta, 1. lékařská fakulta
- Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype2018 | 2. lékařská fakulta
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