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    • Spina Bifida & other Dysraphisms (WG13)
    • Fetal medicine and pathology (WG6)
    • Healthcare & CPMS (WG5)
    • 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
  • News & Events
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    • EuroDysmorpho 2024
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Home > Our Research Activities > List Of Publications > Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia

Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia

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Clinical versus automated assessments of morphological variants in twins with and without neurodevelopmental disorders
Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications
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