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    • Guidelines & consensus (WG11)

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    • Survival guide to genetics
    • ESHG Precision Genomic Medicine Course

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    • MOOC “bioinformatics”

    • Orphanet Updates
    • SysNDD Database

    • Training exchanges

    • Educational videos
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Home > Our Research Activities > List Of Publications > CHN1 and duane retraction syndrome: Expanding the phenotype to cranial nerves development disease

CHN1 and duane retraction syndrome: Expanding the phenotype to cranial nerves development disease

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A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita
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