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    • Guidelines & consensus (WG11)
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    • ERN ITHACA Guidelines
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    • MOOC “bioinformatics”
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    • SysNDD Database
    • Training exchanges
    • Documentation for patients
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Home > Our Research Activities > List Of Publications > KBG syndrome: Common and uncommon clinical features based on 31 new patients

KBG syndrome: Common and uncommon clinical features based on 31 new patients

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Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations
New Insights into the Role of Lipoprotein(a) as Predictor of Early Onset of Cardiovascular Disease in Pediatric Familial Hypercholesterolemia (FH)
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