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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

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 diagnostic...

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Detalles Bibliográficos
Autores principales:	Choukair, Daniela, Hauck, Fabian, Bettendorf, Markus, Krude, Heiko, Klein, Christoph, Bäumer, Tobias, Berner, Reinhard, Lee-Kirsch, Min Ae, Grasemann, Corinna, Burgard, Peter, Hoffmann, Georg F.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8588640/ https://www.ncbi.nlm.nih.gov/pubmed/34772435 http://dx.doi.org/10.1186/s13023-021-02092-w

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