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Landscape analysis of available European data sources amenable for machine learning and recommendations on usability for rare diseases screening

2024 . Raycheva, Ralitsa | Kostadinov, Kostadin | Mitova, Elena | Iskrov, Georgi | Stefanov, Georgi | Vakevainen, Merja | Elomaa, Kaisa | Man, Yuen-Sum | Gross, Edith | Zschüntzsch, Jana | Röttger, Richard | Stefanov, Rumen

Correlation between measured oral health and oral health-related quality of life in people with epidermolysis bullosa: a prospective cohort study

2024 . Joanning, Theresa | Trento, Guilherme | Köppe, Jeanette | Daume, Linda | Kleinheinz, Johannes | Hanisch, Marcel | Oelerich, Ole

Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathies

2024 . Faviez, Carole | Chen, Xiaoyi | Garcelon, Nicolas | Zaidan, Mohamad | Billot, Katy | Petzold, Friederike | Faour, Hassan | Douillet, Maxime | Rozet, Jean-Michel | Cormier-Daire, Valérie | Attié-Bitach, Tania | Lyonnet, Stanislas | Saunier, Sophie | Burgun, Anita

Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries

Oral health and oral-health-related quality of life in people with X-linked hypophosphatemia

2024 . Steur, Jannik | Bohner, Lauren | Jackowski, Jochen | Hanisch, Marcel | Oelerich, Ole