Publikace
- The Human Phenotype Ontology in 2024: phenotypes around the world2024 | 2. lékařská fakulta
- A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype-phenotype correlation2023 | 2. lékařská fakulta, 1. lékařská fakulta
- Cluster analysis of facial phenotypes in autism spectrum disorders based on 3D facial models2023 | Přírodovědecká fakulta, 2. lékařská fakulta
- Zimmermann-Laband syndrome in monozygotic twins with a mild neurobehavioral phenotype lacking gingival overgrowth-A case report of a novel KCNN3 gene variant2022 | 2. lékařská fakulta
- 3D morfometrie obličeje u pacientů s okulo-aurikulo-vertebrálním spektrem2019 | 2. lékařská fakulta, 3. lékařská fakulta
- Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative2019 | 2. lékařská fakulta
- Modeling age-specific facial development in Williams-Beuren-, Noonan-, and 22q11.2 deletion syndromes in cohorts of Czech patients aged 3-18 years: A cross-sectional three-dimensional geometric morphometry analysis of their facial gestalt2018 | Přírodovědecká fakulta, Matematicko-fyzikální fakulta, 2. 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
- An inherited 2q13 deletion in a patient with Marfan syndromePublikace bez příslušnosti k fakultě
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