Publikace
- 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
- Solving unsolved rare neurological diseases-a Solve-RD viewpoint2021 | 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
- Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype2018 | 2. lékařská fakulta
- Molecular Cytogenetic Diagnostics of Marker Chromosomes: Analysis in Four Prenatal Cases and Long-Term Clinical Evaluation of Carriers2018 | 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
- Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations2008 | 2. lékařská fakulta, 3. lékařská fakulta
- 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
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