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    • Spina Bifida & other Dysraphisms (WG13)
    • Fetal medicine and pathology (WG6)
    • Healthcare & CPMS (WG5)
    • Guidelines & consensus (WG11)
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    • Research & innovation (WG12)
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    • ILIAD RD register
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    • Publications
    • ITHACA Research Meeting
  • Guidelines
    • Methodology
    • ERN ITHACA Guidelines
    • Endorsed guidelines
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  • Education
    • Online Genetics Course APOGeE
    • Survival guide to genetics
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    • MOOC “bioinformatics”
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    • SysNDD Database
    • Training exchanges
    • Documentation for patients
  • News & Events
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Home > Our Research Activities > List Of Publications > SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation.

SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation.

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Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
 Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
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