ERN ITHACA
Contact Members area
  • About Us
    • Who We Are
    • What are ERNs ?
    • Our EU expert centers
    • Our EPAGs network
    • Our EU partnerships
  • Our Workgroups
    • Neurodevelopmental disorders (WG5)
    • Spina Bifida & other Dysraphisms (WG13)
    • Fetal medicine and pathology (WG6)
    • Healthcare & CPMS (WG5)
    • Guidelines & consensus (WG11)
    • Teaching & Training (WG8)
    • APOGeE (WG9)
    • European Certificate (WG10)
    • Research & innovation (WG12)
    • Registries (WG7)
  • Our Research Activities
    • ILIAD RD register
    • 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
    • MOOC “Diagnosis Rare Diseases”
    • MOOC “bioinformatics”
    • Orphanet Updates
    • SysNDD Database
    • Training exchanges
    • Documentation for patients
  • News & Events
    • Webinars
    • EuroDysmorpho 2024
    • EuroNDD 2024
    • NSEuronet Meeting
    • ERN-ITHACA Winter School
    • Events
    • News
  • About Us
    • Who We Are
    • What are ERNs ?
    • Our EU expert centers
    • Our EPAGs network
    • Our EU partnerships
  • Our Workgroups
    • Neurodevelopmental disorders (WG5)
    • Spina Bifida & other Dysraphisms (WG13)
    • Fetal medicine and pathology (WG6)
    • Healthcare & CPMS (WG5)
    • Guidelines & consensus (WG11)
    • Teaching & Training (WG8)
    • APOGeE (WG9)
    • European Certificate (WG10)
    • Research & innovation (WG12)
    • Registries (WG7)
  • Our Research Activities
    • ILIAD RD register
    • 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
    • MOOC “Diagnosis Rare Diseases”
    • MOOC “bioinformatics”
    • Orphanet Updates
    • SysNDD Database
    • Training exchanges
    • Documentation for patients
  • News & Events
    • Webinars
    • EuroDysmorpho 2024
    • EuroNDD 2024
    • NSEuronet Meeting
    • ERN-ITHACA Winter School
    • Events
    • News
Members area Contact
Home > Our Research Activities > List Of Publications > Variants in nuclear factor I genes influence growth and development

Variants in nuclear factor I genes influence growth and development

Post navigation

Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects
 A missense variant in the nuclear export signal of the FMR1 gene causes intellectual disability.
Subscribe to ERN-ITHACA's newsletter

ERN ITHACA is one of the 24 European Reference Networks (ERNs) approved by the ERN Board of Member States. The ERNs are co-funded by the European Commission. For more information about the ERNs and the EU health strategy, please visit http://ec.europa.eu/ health/ern

Disclaimer: The content on this website represents the views of the network and is its sole responsibility; it can in no way be taken to reflect the views of the European Commission or any other body of the European Union.

ITHACA logo was created by George Quiney and Angelina Bauder

europe
ern-ithaca
Legal Notice Privacy policy Sitemap