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    • European Reference Networks
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    • How to Cite ERN-ITHACA in Your Publications?
    • ILIAD
    • CPMS
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    • How ERN-ITHACA Supports Patients and Families?
    • ERN-ITHACA Patients Representatives
    • Find an Expert Center
    • Documentation for patients & families
  • ERN Publications
    • Educational Resources
    • Online Genetics Course APOGeE
    • Guidelines
    • Phelan-McDermid Guideline
    • Rubinstein-Taybi syndrome Guideline
    • Guidelines methodology
    • Orphanet Updates
    • SysNDD
    • Survival guide to genetics
  • News
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Home > For Clinicians > List Of Publications > Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome

Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome

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Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction
The added value of the electrocardiogram in Noonan syndrome
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