Publications
- X-linked Myotubular Myopathy: a Novel Mutation in the MTM-1 Gene - Case Reports2013 | First Faculty of Medicine, Second Faculty of Medicine
- Oculopharyngeal muscular dystrophy in the population of the Czech Republic2013 | Second Faculty of Medicine
- Congenital Myasthenia as a Cause of Respiratory Failure in two Infants and a Toddler - Case Reports2012 | Second Faculty of Medicine
- Congenital myasthenic syndrome2007 | Second Faculty of Medicine
- Spectrum of mutations in CX 26 gene in 142 patients with congenital nonsyndromic hearing loss2003 | Second Faculty of Medicine, Central Library of Charles University
- Intra-operative evaluation of cochlear implant recipients with GJB2 - related deafness2003 | Second Faculty of Medicine, Central Library of Charles University
- Congenital hypomyelination in conjunction with de-novo mutation in the gene for the peripheral myelin protein 22 - the first confirmed case in the CR and review of the literature2002 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
- Inherited neuropathy-clinical and electrophysiological findings in the family with CMT X linked neuropathy2002 | Second Faculty of Medicine, Central Library of Charles University
- Connnexin 26 in children with cochlear implant2002 | Second Faculty of Medicine, Central Library of Charles University
- Charcot-Marie-Tooth gonosomal dominant type (CMTX1) - First findings of mutations in the gene for connexin 32 in the Czech Republic2000 | Second Faculty of Medicine
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