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Anna Uhrová Mészárosová

Charles University in Prague

18

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54

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The Cause of Hereditary Hearing Loss in GJB2 Heterozygotes—A Comprehensive Study of the GJB2/DFNB1 Region

2021 Genes
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GATOR1-related focal cortical dysplasia in epilepsy surgery patients and their families: A possible gradient in severity?

2021 European Journal of Paediatric Neurology
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Two types of recessive hereditary spastic paraplegia in Roma patients in compound heterozygous state; no ethnically prevalent variant found

2020 Neuroscience Letters
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Variant c.2158-2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variant.

2020 Orphanet Journal of Rare Diseases
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Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes.

2020 Annals of Human Genetics
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Spectrum and frequencies of non GJB2 gene mutations in Czech patients with early non-syndromic hearing loss detected by NGS gene panel and WES.

2020 Clinical Genetics
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Author response for "Spectrum and frequencies of non GJB2 gene mutations in Czech patients with early non‐syndromic hearing loss detected by NGS gene panel and WES "

2020
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Genetika hereditárních spastických paraplegií

2019
- Anna Uhrová Mészárosová
- Pavel Seeman
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Autosomal recessive hereditary spastic paraplegia type SPG35 due to a novel variant in the FA2H gene in a Czech patient

2019 Journal of Clinical Neuroscience
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Genetics of hereditary spastic paraplegias

2019
- Anna Uhrová Mészárosová
- Pavel Seeman
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