Publikace
- 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
- 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
- Solving patients with rare diseases through programmatic reanalysis of genome-phenome data2021 | 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
- 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
- Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype2018 | 2. lékařská fakulta
- Pendredův syndrom v České republice2011 | 2. lékařská fakulta, 1. lékařská fakulta
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