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    • Guidelines & consensus (WG11)
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    • Methodology
    • ERN ITHACA Guidelines
    • Endorsed guidelines
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    • Online Genetics Course APOGeE
    • Survival guide to genetics
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    • MOOC “bioinformatics”
    • Orphanet Updates
    • SysNDD Database
    • Training exchanges
    • Documentation for patients
  • News & Events
    • Webinars
    • EuroDysmorpho 2024
    • EuroNDD 2024
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Home > Our Research Activities > List Of Publications > Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency

Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency

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Evolocumab in the management of children <10 years of age affected by homozygous familial hypercholesterolemia
Dysregulated miRNAs in bone cells of patients with Gorham-Stout disease
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