Fachrepositorium Lebenswissenschaften | Freier Zugang zu Wissensressourcen aus den Lebenswissenschaften

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Kurzansicht	E-Jahr	Zugriff	Typ	Operations
Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases 2024 . Chiuhui Mary Wang \| Amy Heagle Whiting \| Ana Rath \| Roberta Anido \| Diego Ardigò \| Gareth Baynam \| Hugh Dawkins \| Ada Hamosh \| Yann Le Cam \| Helen Malherbe \| Caron M. Molster \| Lucia Monaco \| Carmencita D. Padilla \| Anne R. Pariser \| Peter N. Robinson \| Charlotte Rodwell \| Franz Schaefer \| Stefanie Weber \| Flaminia Macchia	2024		http://purl.org/ontology/bibo/Article
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	2024		http://purl.org/ontology/bibo/Article
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	2024		http://purl.org/ontology/bibo/Article
Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries 2024 . Schoenmakers, Daphne H. \| Mochel, Fanny \| Adang, Laura A. \| Boelens, Jaap-Jan \| Calbi, Valeria \| Eklund, Erik A. \| Grønborg, Sabine W. \| Fumagalli, Francesca \| Groeschel, Samuel \| Lindemans, Caroline \| Sevin, Caroline \| Schöls, Ludger \| Ram, Dipak \| Zerem, Ayelet \| Graessner, Holm \| Wolf, Nicole Ingeborg	2024		http://purl.org/ontology/bibo/Article
Health-related quality of life of children with X-linked hypophosphatemia in Germany 2024 . Klein, Martin \| Obermaier, Michael \| Mutze, Helena \| Wilden, Sophia Maria \| Rehberg, Mirko \| Schlingmann, Karl Peter \| Schmidt, Dorothee \| Metzing, Oliver \| Huebner, Angela \| Richter-Unruh, Anette \| Kemper, Markus J. \| Weitz, Marcus \| Wühl, Elke \| Jorch, Norbert \| Patzer, Ludwig \| Freiberg, Clemens \| Heger, Sabine \| Ziviknjak, Miroslav \| Schnabel, Dirk \| Haffner, Dieter \| on behalf of the German Society for Pediatric Nephrology (GPN) and the German Society for Pediatric and Adolescent Endocrinology and Diabetology (DGPAED)	2024		http://purl.org/ontology/bibo/Article
Post-streptococcal myositis - ultrasound features of an under-recognised disorder: a case report 2024 . Grießmann, Benedict \| de Groot, Kirsten	2024		http://purl.org/ontology/bibo/Article
Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases 2024 . Wang, Chiuhui Mary \| Whiting, Amy Heagle \| Rath, Ana \| Anido, Roberta \| Ardigò, Diego \| Baynam, Gareth \| Dawkins, Hugh \| Hamosh, Ada \| Le Cam, Yann \| Malherbe, Helen \| Molster, Caron M. \| Monaco, Lucia \| Padilla, Carmencita D. \| Pariser, Anne R. \| Robinson, Peter N. \| Rodwell, Charlotte \| Schaefer, Franz \| Weber, Stefanie \| Macchia, Flaminia	2024		http://purl.org/ontology/bibo/Article
Surveyed common data access policies preferences amongst European Reference Networks - Presentation 2023 . Cámara Ballesteros, Alberto \| Benis, Nirupama \| Bernabé, César \| de Oliveira Coelho Henriques, Ines \| Le Cornec, Clemence \| Demir, Aylin \| dos Santos Vieira, Bruna \| Ramírez García, Jose Antonio \| van der Velde, Joeri \| Zhang, Shuxin \| Cornet, Ronald \| Jacobsen, Annika \| Roos, Marco \| Schaefer, Franz \| Swertz, Morris \| Wilkinson, Mark	2023		http://purl.org/ontology/bibo/Proceedings
Current management of primary mitochondrial disorders in EU countries: the European Reference Networks survey 2023 . mancuso, michelangelo \| Lopriore, Piervito \| Lamperti, Costanza \| Klopstock, Thomas \| Rahman, Shamima \| Licchetta, Laura \| Kornblum, Cornelia \| Wortmann, Saskia B. \| Dollfus, Hélène \| Papadopoulou, Maria T. \| Arzimanoglou, Alexis \| Scarpa, Maurizio \| Graessner, Holm \| Evangelista, Teresinha	2023		http://purl.org/ontology/bibo/Article
ORPHAcodes use for the coding of rare diseases: comparison of the accuracy and cross country comparability 2023 . Mazzucato, Monica \| Pozza, Laura Visonà Dalla \| Facchin, Paola \| Angin, Cèline \| Agius, Francis \| Cavero-Carbonell, Clara \| Corrochano, Virginia \| Hanusova, Katerina \| Kirch, Kurt \| Lambert, Deborah \| Lucano, Caterina \| Maiella, Sylvie \| Panzaru, Monica \| Rusu, Cristina \| Weber, Stefanie \| Zurriaga, Oscar \| Zvolsky, Miroslav \| Rath, Ana	2023		http://purl.org/ontology/bibo/Article

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