Latest News
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New clinical guidelines for the diagnosis and management of spinal dysraphism in children...
We are excited to announce the release of the new clinical guidelines for the diagnosis and management of spinal dysraphism in children and adolescents, with a strong focus on urological health! 🩺💧 These groundbreaking guidelines address key challenges in the care of children with spinal dysraphism, ensuring a holistic approach to: ✅ Early identification of […]
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Program of the 15th Annual Skeletal Dysplasia Course now out!
This Course is intended to provide an introduction to the basic clinical and radiographic diagnostics and clinical management of skeletal dysplasias. Preference will be given to pediatricians, clinical geneticists and radiologists planning to develop a clinical diagnostic activity in the field of genetic skeletal diseases. The number of participants is limited to 20. The official […]
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Free Online Course on ORPHACodes for clinicians
Oslo University Hospital (OUS) launched a free e-learning course on ORPHAcodes in both Norwegian and English, marking an important step in sharing expertise on rare disorders nationally and internationally In this course, you will learn what ORPHAcodes are, the basics about the Orphanet classifications of rare diseases and the advantages of using ORPHAcodes. The target […]
Open Calls
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February 19, 2025
Deep phenotyping and natural history of less characterised dopamine synthesis disorders
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February 19, 2025
PI4K2A related disorders
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February 11, 2025
Prenatal presentation of an RMRP-related disorder
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February 11, 2025
CCDC78-related disorders: defining genotype-phenotype correlation