Předměty
Publikace
- Pierpont syndrome due to mutation c.1337A > G in TBL1XR1 gene2022 | 1. lékařská fakulta
- Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities2021 | 1. lékařská fakulta, 2. lékařská fakulta
- Fatal neonatal nephrocutaneous syndrome in 18 Roma children with EGFR deficiency2020 | 1. lékařská fakulta
- Age Dependent Progression of Multiple Epiphyseal Dysplasia and Pseudoachondroplasia Due to Heterozygous Mutations in COMP Gene2020 | 1. lékařská fakulta
- Attenuated Type of Asphyxiating Thoracic Dysplasia due to Mutations in DYNC2H1 Gene2019 | 1. lékařská fakulta
- Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease - a case report2018 | 1. lékařská fakulta
- The Age Dependent Progression of Hajdu-Cheney Syndrome in Two Families2018 | 1. lékařská fakulta
- Mutation analysis of TRPS1 gene including core promoter, 5 ' UTR, and 3 ' UTR regulatory sequences with insight into their organization2017 | Přírodovědecká fakulta, 1. lékařská fakulta, Matematicko-fyzikální fakulta
- Klinický případ: Noduly barvy kůže u dítěte2017 | 1. lékařská fakulta
- Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness2015 | 1. lékařská fakulta
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