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| dc.contributor.author | Demidov, German | |
| dc.date.accessioned | 2026-02-03T07:26:17Z | |
| dc.date.available | 2026-02-03T07:26:17Z | |
| dc.date.issued | 2025 | |
| dc.identifier.issn | 1018-4813 | |
| dc.identifier.uri | http://hdl.handle.net/10900/174667 | |
| dc.language.iso | en | de_DE |
| dc.publisher | London : Springernature | de_DE |
| dc.relation.uri | http://dx.doi.org/10.1038/s41431-024-01699-4 | de_DE |
| dc.subject.ddc | 570 | de_DE |
| dc.subject.ddc | 610 | de_DE |
| dc.title | Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases | de_DE |
| dc.type | Article | de_DE |
| utue.quellen.id | 20250630000000_02631 | |
| utue.publikation.seiten | 239-247 | de_DE |
| utue.personen.roh | Estevez-Arias, Berta | |
| utue.personen.roh | Matalonga, Leslie | |
| utue.personen.roh | Yubero, Delia | |
| utue.personen.roh | Polavarapu, Kiran | |
| utue.personen.roh | Codina, Anna | |
| utue.personen.roh | Ortez, Carlos | |
| utue.personen.roh | Carrera-Garcia, Laura | |
| utue.personen.roh | Exposito-Escudero, Jesica | |
| utue.personen.roh | Jou, Cristina | |
| utue.personen.roh | Meyer, Stefanie | |
| utue.personen.roh | Kilicarslan, Ozge Aksel | |
| utue.personen.roh | Aleman, Alberto | |
| utue.personen.roh | Thompson, Rachel | |
| utue.personen.roh | Luknarova, Rebeka | |
| utue.personen.roh | Esteve-Codina, Anna | |
| utue.personen.roh | Gut, Marta | |
| utue.personen.roh | Laurie, Steven | |
| utue.personen.roh | Demidov, German | |
| utue.personen.roh | Yepez, Vicente A. | |
| utue.personen.roh | Beltran, Sergi | |
| utue.personen.roh | Gagneur, Julien | |
| utue.personen.roh | Topf, Ana | |
| utue.personen.roh | Lochmueller, Hanns | |
| utue.personen.roh | Nascimento, Andres | |
| utue.personen.roh | Hoenicka, Janet | |
| utue.personen.roh | Palau, Francesc | |
| utue.personen.roh | Natera-de Benito, Daniel | |
| dcterms.isPartOf.ZSTitelID | European Journal of Human Genetics | de_DE |
| dcterms.isPartOf.ZS-Issue | 2 | de_DE |
| dcterms.isPartOf.ZS-Volume | 33 | de_DE |
| utue.fakultaet | 04 Medizinische Fakultät | de_DE |
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4 Medizinische Fakultät [34404]