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    • Fetal medicine and pathology (WG6)
    • Healthcare & CPMS (WG5)
    • Guidelines & consensus (WG11)

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    • APOGeE (WG9)
    • European Certificate (WG10)

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    • 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
    • ESHG Precision Genomic Medicine Course

    • MOOC “Diagnosis Rare Diseases”
    • MOOC “bioinformatics”

    • Orphanet Updates
    • SysNDD Database

    • Training exchanges

    • Educational videos
  • News & Events
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    • EuroDysmorpho 2025
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Home > Our Research Activities > List Of Publications > Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples

Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples

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Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the Literature
Dissecting the Role of PCDH19 in Clustering Epilepsy by Exploiting Patient-Specific Models of Neurogenesis
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