Associated Papers
Clinical and Genetic Spectrum of Patients With Mitochondrial Disease in a Pediatric Egyptian Cohort: Novel Variants and Phenotypic Expansion.
Hassaan HM et al.
American Journal of Medical Genetics. Part A, 2025
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
38703036 (PubMed )
Supplement: ACN3-11-1478-s004.xlsx › children_patients
Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis.
Kumar RD et al.
American Journal of Medical Genetics. Part A, 2022
Identification of a novel splice site mutation in the SERAC1 gene responsible for the MEGDHEL syndrome.
Snanoudj S et al.
Molecular Genetics & Genomic Medicine, 2019
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.
Maas RR et al.
Annals of Neurology, 2017
Global Carrier Rates of Rare Inherited Disorders Using Population Exome Sequences.
Fujikura K
Plos One, 2016
MEGDEL Syndrome in a Child From Palestine: Report of a Novel Mutation in SERAC1 Gene.
Dweikat IM et al.
Journal of Child Neurology, 2015
Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria.
Tort F et al.
Molecular Genetics and Metabolism, 0
Identification of the rs797045105 in the SERAC1 Gene by Whole-exome Sequencing in a Patient Suspicious of MEGDEL Syndrome.
Zamani M et al.
Basic and Clinical Neuroscience, 0
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
Select a paper to view details