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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

The experiences and perceptions of people with chronic and rare diseases during political-economic sanctions in Iran: a qualitative study

2024 . Kiani, Mohammad Mehdi | Mostafavi, Hakimeh | Ebrahimi, Fatemeh | Majdzadeh, Reza | Mohamadi, Efat | Kraemer, Alexander | Olyaeemanesh, Alireza | Takian, Amirhossein

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

Coding undiagnosed rare disease patients in health information systems: recommendations from the RD-CODE project

2024 . Angin, Céline | Mazzucato, Monica | Weber, Stefanie | Kirch, Kurt | Abdel Khalek, Waed | Ali, Houda | Maiella, Sylvie | Olry, Annie | Jannot, Anne-Sophie | Rath, Ana

How to design a registry for undiagnosed patients in the framework of rare disease diagnosis: suggestions on software, data set and coding system

2021 . Berger, Alexandra | Rustemeier, Anne-Kathrin | Göbel, Jens | Kadioglu, Dennis | Britz, Vanessa | Schubert, Katharina | Mohnike, Klaus | Storf, Holger | Wagner, Thomas O. F.

Supportive care needs of patients with rare chronic diseases: multi-method, cross-sectional study

2021 . Depping, Miriam Katharina | Uhlenbusch, Natalie | von Kodolitsch, Yskert | Klose, Hans F. E. | Mautner, Victor-Felix | Löwe, Bernd

The combined prevalence of classified rare rheumatic diseases is almost double that of ankylosing spondylitis

2021 . Leyens, Judith | Bender, Tim Th. A. | Mücke, Martin | Stieber, Christiane | Kravchenko, Dmitrij | Dernbach, Christian | Seidel, Matthias

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