Classes
Publications
- We have a daughter or not? Androgen insensivity syndrome2014 | First Faculty of Medicine
- X-linked Myotubular Myopathy: a Novel Mutation in the MTM-1 Gene - Case Reports2013 | First Faculty of Medicine, Second Faculty of Medicine
- Is it always possible to determine a diagnosis? Prenatal ultrasonography, post mortem magnetic resonance, autopsy2010 | First Faculty of Medicine
- Commentary: Preimplantation Genetic Diagnosis2009 | First Faculty of Medicine
- Mutations in the Heparan-Sulfate Proteoglycan Glypican 6 (GPC6) Impair Endochondral Ossification and Cause Recessive Omodysplasia2009 | First Faculty of Medicine
- Cleft Lip and Palate - Prenatal Diagnosis and Counselling1998 | First Faculty of Medicine, Central Library of Charles University
- Prenatal diagnosis and outcomeof skeletal dysplasiasPublication without faculty affiliation
- Pierpont syndrome due to mutation c.1337A > G in TBL1XR1 gene2022 | First Faculty of Medicine
- Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities2021 | First Faculty of Medicine, Second Faculty of Medicine
- Fatal neonatal nephrocutaneous syndrome in 18 Roma children with EGFR deficiency2020 | First Faculty of Medicine
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