Publication:
Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases

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dc.bibliographiccitation.journalEuropean Journal of Human Genetics
dc.contributor.authorEstévez-Arias, Berta
dc.contributor.authorMatalonga, Leslie
dc.contributor.authorYubero, Delia
dc.contributor.authorPolavarapu, Kiran
dc.contributor.authorCodina, Anna
dc.contributor.authorOrtez, Carlos
dc.contributor.authorCarrera-García, Laura
dc.contributor.authorExpósito-Escudero, Jesica
dc.contributor.authorJou, Cristina
dc.contributor.authorMeyer, Stefanie
dc.contributor.authorNatera-de Benito, Daniel
dc.date.accessioned2024-10-04T22:12:52Z
dc.date.available2024-10-04T22:12:52Z
dc.date.issued2024
dc.description.sponsorshipMinistry of Economy and Competitiveness | Instituto de Salud Carlos III https://doi.org/10.13039/501100004587
dc.description.sponsorshipGovernment of Catalonia | Agència de Gestió d'Ajuts Universitaris i de Recerca https://doi.org/10.13039/501100003030
dc.description.sponsorshipDeutsche Forschungsgemeinschaft https://doi.org/10.13039/501100001659
dc.description.sponsorshipGouvernement du Canada | Canadian Institutes of Health Research https://doi.org/10.13039/501100000024
dc.description.sponsorshipCanada Foundation for Innovation https://doi.org/10.13039/501100000196
dc.description.sponsorshipCanada Research Chairs https://doi.org/10.13039/501100001804
dc.description.sponsorshipMinistry of Economy and Competitiveness | Agencia Estatal de Investigación https://doi.org/10.13039/501100011033
dc.description.sponsorshipGovernment of Catalonia | Agència de Gestió d'Ajuts Universitaris i de Recerca
dc.identifier.doi10.1038/s41431-024-01699-4
dc.identifier.pii1699
dc.identifier.urihttps://resolver.sub.uni-goettingen.de/purl?gro-2/145592
dc.item.fulltextNo Fulltext
dc.language.isoen
dc.notes.internDOI-Import GROB-750
dc.relation.eissn1476-5438
dc.relation.issn1018-4813
dc.rights.urihttps://www.springernature.com/gp/researchers/text-and-data-mining
dc.titlePhenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases
dc.typejournal_article
dc.type.internalPublicationyes
dspace.entity.typePublication

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