Publikace
- Spliceosome malfunction causes neurodevelopmental disorders with overlapping features2024 | 2. 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
- Solving patients with rare diseases through programmatic reanalysis of genome-phenome data2021 | 2. lékařská fakulta
- The key role of purine metabolism in the folate-dependent phenotype of autism spectrum disorders: An in silico analysis2020 | 2. lékařská fakulta
- The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages2019 | 2. lékařská fakulta
- Identification of likely associations between cerebral folate deficiency and complex genetic- and metabolic pathogenesis of autism spectrum disorders by utilization of a pilot interaction modeling approach2017 | 2. lékařská fakulta
- Pendredův syndrom v České republice2011 | 2. lékařská fakulta, 1. lékařská fakulta
- Komplexní chromozomová přestavba u chlapce z rizikové gravidity - kazuistikaPublikace bez příslušnosti k fakultě
- 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
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