Associated Papers
Clinical and Genetic Spectrum of Patients with Pediatric-Onset Epilepsy: Insights from a Single-Center Study.
Tozkir H et al.
Genes, 2025
Genetic landscape of pediatric acute liver failure of indeterminate origin.
Lenz D et al.
Hepatology (baltimore, Md.), 2024
37976411 (PubMed )
Supplement: hep-79-1075-s005.xlsx › Sup_Table_4
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K et al.
Journal of Neurodevelopmental Disorders, 2024
38539105 (PubMed )
Supplement: 11689_2024_9528_MOESM2_ESM.xlsx › Diagnosed
Distinct neonatal hyperammonemia and liver synthesis dysfunction: case report of a severe MEGDHEL syndrome.
Kirchberg I et al.
Frontiers in Pediatrics, 2024
First description of the MEGDEHL syndrome in the Tunisian population via whole-exome sequencing: Novel nonsense mutation in SERAC1 gene.
Felhi R et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2022
Congenital cochlear deafness in mitochondrial diseases related to RRM2B and SERAC1 gene defects. A study of the mitochondrial patients of the CMHI hospital in Warsaw, Poland.
Iwanicka-Pronicka K et al.
International Journal of Pediatric Otorhinolaryngology, 2019
SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family.
Roeben B et al.
Journal of Medical Genetics, 2018
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.
Maas RR et al.
Annals of Neurology, 2017
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
Pronicka E et al.
Journal of Translational Medicine, 2016
Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome - implications from a multi-center retrospective cohort study.
Roesch S et al.
Molecular Genetics and Metabolism, 0
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