Optical Genome Mapping Reveals Disruption of the RASGRF2 Gene in a Patient with Developmental Delay Carrying a De Novo Balanced Reciprocal Translocation

Lederbogen, Rosa Catalina; Hoffjan, Sabine; Thiels, Charlotte; Mau-Holzmann, Ulrike Angelika; Singer, Sylke; Yusenko, Maria Viktorovna; Nguyen, Hoa Huu Phuc; Gerding, Wanda Maria

dc.contributor.author	Singer, Sylke
dc.contributor.author	Mau-Holzmann, Ulrike A.
dc.date.accessioned	2025-03-25T10:53:40Z
dc.date.available	2025-03-25T10:53:40Z
dc.date.issued	2024
dc.identifier.issn	2073-4425
dc.identifier.uri	http://hdl.handle.net/10900/163346
dc.language.iso	en	de_DE
dc.publisher	Basel : Mdpi	de_DE
dc.relation.uri	http://dx.doi.org/10.3390/genes15060809	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Optical Genome Mapping Reveals Disruption of the RASGRF2 Gene in a Patient with Developmental Delay Carrying a De Novo Balanced Reciprocal Translocation	de_DE
dc.type	Article	de_DE
utue.quellen.id	20241001000000_01305
utue.personen.roh	Lederbogen, Rosa Catalina
utue.personen.roh	Hoffjan, Sabine
utue.personen.roh	Thiels, Charlotte
utue.personen.roh	Mau-Holzmann, Ulrike Angelika
utue.personen.roh	Singer, Sylke
utue.personen.roh	Yusenko, Maria Viktorovna
utue.personen.roh	Nguyen, Hoa Huu Phuc
utue.personen.roh	Gerding, Wanda Maria
dcterms.isPartOf.ZSTitelID	Genes	de_DE
dcterms.isPartOf.ZS-Issue	Article 809	de_DE
dcterms.isPartOf.ZS-Volume	15 (6)	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE