De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome

Ufartes, Roser; Berger, Hanna; Till, Katharina; Salinas, Gabriela; Sturm, Marc; Altmueller, Janine; Nuernberg, Peter; Thiele, Holger; Funke, Rudolf; Apeshiotis, Neophytos; Langen, Hendrik; Wollnik, Bernd; Borchers, Annette; Pauli, Silke

dc.contributor.author	Sturm, Marc
dc.date.accessioned	2020-09-08T12:06:40Z
dc.date.available	2020-09-08T12:06:40Z
dc.identifier.issn	1432-1203
dc.identifier.uri	http://hdl.handle.net/10900/106420
dc.language.iso	en	en
dc.publisher	Springer	de_DE
dc.relation.uri	http://dx.doi.org/10.1007/s00439-020-02175-x
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome	de_DE
dc.type	Article	de_DE
utue.quellen.id	20200715072417_00444
utue.personen.roh	Ufartes, Roser
utue.personen.roh	Berger, Hanna
utue.personen.roh	Till, Katharina
utue.personen.roh	Salinas, Gabriela
utue.personen.roh	Sturm, Marc
utue.personen.roh	Altmueller, Janine
utue.personen.roh	Nuernberg, Peter
utue.personen.roh	Thiele, Holger
utue.personen.roh	Funke, Rudolf
utue.personen.roh	Apeshiotis, Neophytos
utue.personen.roh	Langen, Hendrik
utue.personen.roh	Wollnik, Bernd
utue.personen.roh	Borchers, Annette
utue.personen.roh	Pauli, Silke
dcterms.isPartOf.ZSTitelID	Human Genetics	de_DE
utue.fakultaet	04 Medizinische Fakultät