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eliana salvo

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https://researchid.co/eliana.salvo
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9Scopus Publications

Recent Scopus Publications

  1. Chromothriptic Translocation t(1;18): A Paradigm of Genomic Complexity in a Child with Normal Intellectual Development and Pyridoxine-Dependent Epilepsy
    Genes, 2025
  2. Constitutional copy number amplifications: rare or under-evaluated? Revisiting a 25-year-old cold case
    European Journal of Human Genetics, 2025
  3. Small Complex Rearrangement in HINT1-Related Axonal Neuropathy
    Genes, 2024
  4. Case Report: Decrypting an interchromosomal insertion associated with Marfan’s syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants
    Frontiers in Genetics, 2023
  5. Case Report: A Novel Homozygous Missense Variant of FBN3 Supporting It Is a New Candidate Gene Causative of a Bardet–Biedl Syndrome–Like Phenotype
    Frontiers in Genetics, 2022

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