Latest News
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ERNs Evaluation Results Report: Kudos to ERNs!
Results of the evaluation of ERNs were just published by the European Commission. To write this report, 24 interviews with ERN coordination teams and ePAGs advocacies, as well as audits of almost 200 HCPs were conducted by a team of 179 independant evaluators. Additional information, suggestions and comments were also collected through online questionnaires sent […]
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Rare Genetic Conditions Photo Exhibition at the Santa Maria ITHACA Center: check out...
Last November 15th, the Service of Medical Genetics that belongs to Unidade Local de Saúde Santa Maria, in Lisbon, Portugal, celebrated its 25th anniversary. The celebration included a lecture given by guest speaker Prof. Sofia Douzgou Houge and the vernissage of a photography exhibition. This photography exhibition entitled “25 years, 25 faces – Rewriting the […]
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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 […]
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