Publikace
- The Human Phenotype Ontology in 2024: phenotypes around the world2024 | 2. lékařská fakulta
- Cluster analysis of facial phenotypes in autism spectrum disorders based on 3D facial models2023 | 2. lékařská fakulta, Přírodovědecká fakulta
- Dermatoglyphic Patterns in Monozygotic Twins with Zimmermann-Laband Syndrome2023 | 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
- Natural history of KBG syndrome in a large European cohort2022 | 2. lékařská fakulta
- Solving patients with rare diseases through programmatic reanalysis of genome-phenome data2021 | 2. lékařská fakulta
- A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis2021 | 2. lékařská fakulta
- A girl with an inherited central deletion 22q11.21 resulting in DiGeorge syndrome without typical congenital anomalies2019 | Ústřední knihovna, 2. lékařská fakulta
- A girl with an inherited central deletion 22q11.21 resulting in DiGeorge syndrome without typical congenital anomaliesPublikace bez příslušnosti k fakultě
- Molecular genetic cause of non-syndromic congenital and juvenile cataracts in the Czech populationPublikace bez příslušnosti k fakultě
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