Showing 1 - 3 results of 3 for search 'Marta Frigeni', query time: 0.04s Refine Results
  1. 1
    P425: Expanding the phenotype of biallelic variants in the MYBPC3 gene: Sudden death in a teenager with a structurally normal heart

    P425: Expanding the phenotype of biallelic variants in the MYBPC3 gene: Sudden death in a teenager with a structurally normal heart by Holly Brown, Marta Frigeni

    Published 2025-01-01
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  2. 2
    P387: Novel variant identified in the TET3 gene: A mother-daughter case that expands the phenotype of TET3-related disorders

    P387: Novel variant identified in the TET3 gene: A mother-daughter case that expands the phenotype of TET3-related disorders by Holly Brown, Brady Kahner, Marta Frigeni

    Published 2025-01-01
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  3. 3
    P074: Mitochondrial complex II deficiency: Heterozygous loss of function variant in the SDHA gene causing a severe neonatal phenotype

    P074: Mitochondrial complex II deficiency: Heterozygous loss of function variant in the SDHA gene causing a severe neonatal phenotype by Holly Brown, Mamunur Rayhan, Marta Frigeni

    Published 2025-01-01
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