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    • Guidelines & consensus (WG11)

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    • ERN ITHACA Guidelines
    • Endorsed guidelines
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    • Online Genetics Course APOGeE
    • Survival guide to genetics
    • ESHG Precision Genomic Medicine Course

    • MOOC “Diagnosis Rare Diseases”
    • MOOC “bioinformatics”

    • Orphanet Updates
    • SysNDD Database

    • Training exchanges

    • Educational videos
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Home > Our Research Activities > List Of Publications > Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome

Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome

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Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report
Clinical versus automated assessments of morphological variants in twins with and without neurodevelopmental disorders
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