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Genetic testing offer for inherited neuromuscular diseases within the EURO-NMD reference network: A European survey study

The genetic diagnostics of inherited neuromuscular diseases (NMDs) is challenging due to their clinical and genetic heterogeneity. We launched an online survey within the EURO-NMD European Reference Network (ERN) to collect information about the availability/distribution of genetic testing across 61...

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Detalles Bibliográficos
Autores principales: Peterlin, Borut, Gualandi, Francesca, Maver, Ales, Servidei, Serenella, van der Maarel, Silvère M., Lamy, Francoise, Mejat, Alexander, Evangelista, Teresinha, Ferlini, Alessandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7500674/
https://www.ncbi.nlm.nih.gov/pubmed/32946487
http://dx.doi.org/10.1371/journal.pone.0239329