Exome Sequencing and Optical Genome Mapping in Molecularly Unsolved Cases of Duchenne Muscular Dystrophy: Identification of a Causative X-Chromosomal Inversion Disrupting the DMD Gene

Erbe, Leoni S.; Hoffjan, Sabine; Janssen, Soeren; Kneifel, Moritz; Krause, Karsten; Gerding, Wanda M.; Doering, Kristina; Guettsches, Anne-Katrin; Roos, Andreas; Atienza, Elena Buena; Gross, Caspar; Luecke, Thomas; Nguyen, Hoa Huu Phuc; Vorgerd, Matthias; Koehler, Cornelia

dc.contributor.author	Atienza, Elena Buena
dc.contributor.author	Gross, Caspar
dc.date.accessioned	2024-04-24T12:58:43Z
dc.date.available	2024-04-24T12:58:43Z
dc.date.issued	2023
dc.identifier.issn	1661-6596
dc.identifier.uri	http://hdl.handle.net/10900/152948
dc.language.iso	en	en
dc.publisher	Basel : Mdpi	de_DE
dc.relation.uri	http://dx.doi.org/10.3390/ijms241914716
dc.subject.ddc	570	de_DE
dc.subject.ddc	540	de_DE
dc.title	Exome Sequencing and Optical Genome Mapping in Molecularly Unsolved Cases of Duchenne Muscular Dystrophy: Identification of a Causative X-Chromosomal Inversion Disrupting the DMD Gene	de_DE
dc.type	Article	de_DE
utue.quellen.id	20240124000000_00947
utue.personen.roh	Erbe, Leoni S.
utue.personen.roh	Hoffjan, Sabine
utue.personen.roh	Janssen, Soeren
utue.personen.roh	Kneifel, Moritz
utue.personen.roh	Krause, Karsten
utue.personen.roh	Gerding, Wanda M.
utue.personen.roh	Doering, Kristina
utue.personen.roh	Guettsches, Anne-Katrin
utue.personen.roh	Roos, Andreas
utue.personen.roh	Atienza, Elena Buena
utue.personen.roh	Gross, Caspar
utue.personen.roh	Luecke, Thomas
utue.personen.roh	Nguyen, Hoa Huu Phuc
utue.personen.roh	Vorgerd, Matthias
utue.personen.roh	Koehler, Cornelia
dcterms.isPartOf.ZSTitelID	International Journal of Molecular Sciences	de_DE
dcterms.isPartOf.ZS-Issue	19	de_DE
dcterms.isPartOf.ZS-Volume	24	de_DE
utue.fakultaet	04 Medizinische Fakultät
utue.fakultaet	07 Mathematisch-Naturwissenschaftliche Fakultät
utue.fakultaet	Sonstige