Latest News
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ERN-ITHACA Multidisciplinary Fetal Diagnostics Winter School – Save the date!
This year, the winter school will take place on December 4th, at the Imagine Institute in Paris. The winter school will also be followed by the SOFFOET Best of Meeting, on December 5th. This year, the program of the winter school will be focused on skeletal dysplasias. The winter school is open to 60 participants […]
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EPNS Congress 8-12 July 2025 – Save the date/abstracts welcome
Welcome to the 16th Congress of the European Paediatric Neurology Society (EPNS) where we classify our field into A for Acute, B for Brain, Health & Science and C for Chronic. We invite you to be part of this unique ABC format to learn, teach, meet, network and exchange ideas on an international stage. Learn more about the stimulating programme and SUBMIT your ABSTRACT (closes 15 January 2025): https://epns-congress.com/ Any […]
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Registrations to the 2025 European exam of genetics (ECMGG) now open!
The European Certificate in Medical Genetics and Genomics (ECMGG) is the geneticsexam at the European level, that ITHACA is a partner of. It is a joint development of the UEMS Section of Medical Genetics (UEMS-SMG) and the Branch of Medical Genetics and Genomics of the European Board of Medical Genetics (EBMG-BMGG), and has the support […]
Open Calls
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November 19, 2024
Characterization of the clinical phenotype of the 8q12 microduplication syndrome
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November 19, 2024
Further delineation of the De Santo Shinawi Syndrome phenotype using a series of individuals carrying a pathogenic variant of the WAC gene
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November 19, 2024
ETF1 variants / neurodevelopment
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November 12, 2024
Delineating the clinical and molecular spectrum of FOXP4 syndrome