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Katalin Szakszon

University of Debrecen

40

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Four New Cases of Hypomyelinating Leukodystrophy Associated with the UFM1 c.-155_-153delTCA Founder Mutation in Pediatric Patients of Roma Descent in Hungary

2021 Genes
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Correlation of GAA Genotype and Acid-α-Glucosidase Enzyme Activity in Hungarian Patients with Pompe Disease.

2021
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MED13L-related intellectual disability due to paternal germinal mosaicism.

2021
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Greig Cephalopolysyndactyly Contiguous Gene Syndrome: Case Report and Literature Review

2021 Genes
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22q13 Microduplication Syndrome in Siblings with Mild Clinical Phenotype: Broadening the Clinical and Behavioral Spectrum

2020 Molecular Syndromology
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A Novel Homozygous Frameshift WDR81 Mutation associated with Microlissencephaly, Corpus Callosum Agenesis, and Pontocerebellar Hypoplasia

2020 Journal of pediatric genetics
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A novel splice site indel alteration in the EIF2AK3 gene is responsible for the first cases of Wolcott-Rallison syndrome in Hungary.

2020 BMC Medical Genetics
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FBN1 gene mutations in 26 Hungarian patients with suspected Marfan syndrome or related fibrillinopathies

2019 Journal of Biotechnology
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Copy number variants detection by microarray and multiplex ligation-dependent probe amplification in congenital heart diseases

2019 Journal of Biotechnology
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Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann–Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations

2018 Human Genetics
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