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    • Spina Bifida & other Dysraphisms (WG13)
    • Fetal medicine and pathology (WG6)
    • Healthcare & CPMS (WG5)
    • Guidelines & consensus (WG11)
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    • APOGeE (WG9)
    • European Certificate (WG10)
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  • Our Research Activities
    • ILIAD RD register
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    • Publications
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    • Methodology
    • ERN ITHACA Guidelines
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    • 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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    • EuroDysmorpho 2024
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Home > Our Research Activities > List Of Publications > Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency

Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency

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Growth charts in Cockayne syndrome type 1 and type 2
Smith-Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort
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