Publikace
- Homozygous EXOSC3 Mutation c.92G -> C, p.G31A is a Founder Mutation Causing Severe Pontocerebellar Hypoplasia Type 1 Among the Czech Roma2013 | 2. lékařská fakulta
- Pontocerebellar hypoplasia type 1 Clinical spectrum and relevance of EXOSC3 mutations2013 | 2. lékařská fakulta
- Clinical and in silico evidence for and against pathogenicity of 11 new mutations in the MPZ gene2010 | 1. lékařská fakulta, 2. lékařská fakulta, Fakulta tělesné výchovy a sportu
- Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene2009 | 2. lékařská fakulta
- Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study2008 | 2. lékařská fakulta
- Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel2024 | 2. lékařská fakulta
- The NBN founder mutation-Evidence for a country specific difference in age at cancer manifestation2023 | 2. lékařská fakulta
- A progressive KY myopathy could be caused by a missense pathogenic variant2023 | 2. lékařská fakulta
- Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies2023 | 2. lékařská fakulta
- SPG11: clinical and genetic features of seven Czech patients and literature review2022 | 1. lékařská fakulta, 2. lékařská fakulta
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