Publications
- EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus2013 | Second Faculty of Medicine
- Charcot-Marie-Tooth neuropathy due to a novel EGR2 gene mutation with mild phenotype - Usefulness of human mapping chip linkage analysis in a Czech family2012 | Second Faculty of Medicine
- Phenotypic Variability in a Large Czech Family with a Dynamin 2-Associated Charcot-Marie-Tooth Neuropathy2011 | 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
- SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve2004 | Second Faculty of Medicine
- A severe connatal form of Pelizaeus Merzbacher disease in a Czech boy caused by a novel mutation (725C > A, Ala242Glu) at the 'Jimpy(msd) codon' in the PLP gene2002 | Second Faculty of Medicine
- Charcot-Marie-Tooth type X : A novel mutation in the Cx32 gene with central conduction slowing2001 | Second Faculty of Medicine
- Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel2024 | Second Faculty of Medicine
- The NBN founder mutation-Evidence for a country specific difference in age at cancer manifestation2023 | Second Faculty of Medicine
- A progressive KY myopathy could be caused by a missense pathogenic variant2023 | Second Faculty of Medicine
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