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    • Fetal medicine and pathology (WG6)
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    • Guidelines & consensus (WG11)
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    • ILIAD RD register
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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
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    • MOOC “bioinformatics”
    • Orphanet Updates
    • SysNDD Database
    • Training exchanges
    • Documentation for patients
  • News & Events
    • Webinars
    • EuroDysmorpho 2024
    • EuroNDD 2024
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Home > Our Research Activities > List Of Publications > Dopachrome tautomerase variants in patients with oculocutaneous albinism

Dopachrome tautomerase variants in patients with oculocutaneous albinism

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Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials
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