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 4, 2024
Extra-renal manifestations of MAPKBP1-associated disease
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November 4, 2024
Delineating the phenotypic spectrum of maternal uniparental disomy of chromosome 20 (UPD(20)mat)
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November 4, 2024
Clinical, molecular and functional characterization of USP20 variants in protein-protein interacting domains
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November 4, 2024
Mowatt-Wilson fetal cohort (ZEB2)