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    • Spina Bifida & other Dysraphisms (WG13)
    • Fetal medicine and pathology (WG6)
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    • Guidelines & consensus (WG11)
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    • APOGeE (WG9)
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  • Our Research Activities
    • ILIAD registry
    • Calls for collaboration
    • Publications
    • ITHACA Research Meeting
  • Guidelines
    • Methodology
    • ERN ITHACA Guidelines
    • Endorsed guidelines
    • Patient Journeys
  • Education
    • Online Genetics Course APOGeE
    • Survival guide to genetics
    • ESHG Precision Genomic Medicine Course
    • MOOC “Diagnosis Rare Diseases”
    • MOOC “bioinformatics”
    • The Genetic Half-Hour – a two-year course of clinical genetics
    • Orphanet Updates
    • SysNDD Database
    • Training exchanges
    • Educational videos
    • Children of Genetics
  • News & Events
    • Webinars
    • EuroDysmorpho 2026
    • NSEuronet Meeting
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Home > Our Research Activities > List Of Publications > Diagnosis and management of Silver-Russell syndrome: second international consensus statement

Diagnosis and management of Silver-Russell syndrome: second international consensus statement

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Abnormal ClC-3/TMEM9-mediated endosomal ion transport in CLCN3-associated neurodevelopmental disease
Methodological rigor of rare disease guidelines in Europe: a scoping review and critical appraisal
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