Publications
- Spliceosome malfunction causes neurodevelopmental disorders with overlapping features2024 | Second Faculty of Medicine
- A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype-phenotype correlation2023 | Second Faculty of Medicine, First Faculty of Medicine
- Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities2021 | Second Faculty of Medicine, First Faculty of Medicine
- A novel variant of C12orf4 in a consanguineous Armenian family confirms the etiology of autosomal recessive intellectual disability type 66 with delineation of the phenotype2019 | Second Faculty of Medicine, First Faculty of Medicine
- Neurofibromatosis von Recklinghausen type 1 (NF1) - clinical picture and molecular-genetics diagnostic2015 | Second Faculty of Medicine, First Faculty of Medicine
- The importance of advanced parental age in the origin of neurofibromatosis type 12012 | Second Faculty of Medicine
- Mid-aortic syndrome with renovascular hypertension and multisystem involvement in a girl with familiar neurofibromatosis von Recklinghausen type 12007 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- Novel mutations in the NF1 gene in Czech patients with neurofibromatosis type 12007 | Second Faculty of Medicine
- A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 172007 | Second Faculty of Medicine
- anamnézy; defekt jednoho genu2006 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport, Central Library of Charles University, Third Faculty of Medicine
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