An Integrated clinical pathway for diagnosis, treatment and care of rare diseases: model, operating procedures, and results of the project TRANSLATE-NAMSE funded by the German Federal Joint Committee

Abstract Background Diagnosis, treatment, and care of patients with rare diseases require multidisciplinary cooperation between medical and paramedical specialities and with patients and families. Innovative genetic diagnostics, whole exome and whole genome sequencing (WES, WGS) has enlarged the dia...

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Main Authors: Daniela Choukair, Fabian Hauck, Markus Bettendorf, Heiko Krude, Christoph Klein, Tobias Bäumer, Reinhard Berner, Min Ae Lee-Kirsch, Corinna Grasemann, Peter Burgard, Georg F. Hoffmann
Format: article
Language:EN
Published: BMC 2021
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Online Access:https://doaj.org/article/87d0b039802740118b8a8dc67a58c094
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