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    • European Reference Networks
    • Interaction with Other European Initiatives
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    • Expert Centers
    • List of Publications
    • How to Cite ERN-ITHACA in Your Publications?
    • ILIAD
    • CPMS
  • For Patients and Families
    • 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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    • Past Events
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    • RASopathie meeting
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Home > For Clinicians > List Of Publications > Defining language disorders in children and adolescents with Noonan Syndrome

Defining language disorders in children and adolescents with Noonan Syndrome

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Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review
Developmental and epileptic encephalopathy due to SZT2 genomic variants: Emerging features of a syndromic condition
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