Unidade de investigación
Servicio
Charité
Berlín, AlemaniaPublicacións en colaboración con investigadores/as de Charité (8)
2024
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Proposed diagnostic criteria for arrhythmogenic cardiomyopathy: European Task Force consensus report
International Journal of Cardiology, Vol. 395
2022
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A novel Troponin I mutation associated with severe restrictive cardiomyopathy - A case report of a 27-year-old woman with fatigue
European Heart Journal - Case Reports, Vol. 6, Núm. 2
2021
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Extracellular Matrix in Heart Failure: Role of ADAMTS5 in Proteoglycan Remodeling
Circulation, Vol. 144, Núm. 25, pp. 2021-2034
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Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1
Autophagy, Vol. 17, Núm. 1, pp. 1-382
2020
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Familial recurrent myocarditis triggered by exercise in patients with a truncating variant of the desmoplakin gene
Journal of the American Heart Association, Vol. 9, Núm. 10
2012
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Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration
Nature Genetics, Vol. 44, Núm. 6, pp. 704-708
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Querying phenotype-genotype relationships on patient datasets using semantic web technology: The example of cerebrotendinous xanthomatosis
BMC Medical Informatics and Decision Making, Vol. 12, Núm. 1
2011
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Call for participation in the neurogenetics consortium within the Human Variome Project
Neurogenetics, Vol. 12, Núm. 3, pp. 169-173