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    • Spina Bifida & other Dysraphisms (WG13)
    • Fetal medicine and pathology (WG6)
    • Healthcare & CPMS (WG5)
    • Guidelines & consensus (WG11)
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    • Publications
    • ITHACA Research Meeting
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    • Methodology
    • ERN ITHACA Guidelines
    • Endorsed guidelines
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    • Online Genetics Course APOGeE
    • Survival guide to genetics
    • MOOC “Diagnosis Rare Diseases”
    • MOOC “bioinformatics”
    • Orphanet Updates
    • SysNDD Database
    • Training exchanges
    • Documentation for patients
  • News & Events
    • Webinars
    • EuroDysmorpho 2024
    • EuroNDD 2024
    • NSEuronet Meeting
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Home > Our Research Activities > List Of Publications > Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications

Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications

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Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia
Discovery of Novel Sequences in 1,000 Swedish Genomes
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