Publications
- Mosaicism for GJB1 mutation causes milder Charcot-Marie-Tooth X1 phenotype in a heterozygous man than in a manifesting heterozygous woman2013 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport, Faculty of Science
- Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients2013 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
- X-linked Myotubular Myopathy: a Novel Mutation in the MTM-1 Gene - Case Reports2013 | First Faculty of Medicine, Second Faculty of Medicine
- EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus2013 | Second Faculty of Medicine
- Congenital Myasthenia as a Cause of Respiratory Failure in two Infants and a Toddler - Case Reports2012 | Second Faculty of Medicine
- Utility of Charcot-Marie-Tooth Neuropathy Score in Children With Type 1A Disease2010 | Second Faculty of Medicine
- Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene2009 | Second Faculty of Medicine
- GDAP1 mutations in Czech families with early-onset CMT2007 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
- Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general gypsy population and individual subisolates2007 | Second Faculty of Medicine
- Congenital myasthenic syndrome2007 | Second Faculty of Medicine
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