Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects

Roos, Andreas; van der Ven, Peter F. M.; Alrohaif, Hadil; Koelbel, Heike; Heil, Lorena; Della Marina, Adela; Weis, Joachim; Assent, Marvin; Beck-Woedl, Stefanie; Barresi, Rita; Toepf, Ana; O'Connor, Kaela; Sickmann, Albert; Kohlschmidt, Nicolai; El Gizouli, Magdeldin; Meyer, Nancy; Daya, Nassam; Grande, Valentina; Bois, Karin; Kaiser, Frank J.; Vorgerd, Matthias; Schroeder, Christopher; Schara-Schmidt, Ulrike; Gangfuss, Andrea; Evangelista, Teresinha; Roebisch, Luisa; Hentschel, Andreas; Grueneboom, Anika; Fuerst, Dieter O.; Kuechler, Alma; Tzschach, Andreas; Depienne, Christel; Lochmueller, Hanns

dc.contributor.author	Beck-Woedl, Stefanie
dc.date.accessioned	2024-10-10T10:18:03Z
dc.date.available	2024-10-10T10:18:03Z
dc.date.issued	2023
dc.identifier.issn	0006-8950
dc.identifier.uri	http://hdl.handle.net/10900/157972
dc.language.iso	en	de_DE
dc.publisher	Oxford : Oxford Univ Press	de_DE
dc.relation.uri	http://dx.doi.org/10.1093/brain/awad152	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects	de_DE
dc.type	Article	de_DE
utue.quellen.id	20240730000000_03417
utue.publikation.seiten	4200-4216	de_DE
utue.personen.roh	Roos, Andreas
utue.personen.roh	van der Ven, Peter F. M.
utue.personen.roh	Alrohaif, Hadil
utue.personen.roh	Koelbel, Heike
utue.personen.roh	Heil, Lorena
utue.personen.roh	Della Marina, Adela
utue.personen.roh	Weis, Joachim
utue.personen.roh	Assent, Marvin
utue.personen.roh	Beck-Woedl, Stefanie
utue.personen.roh	Barresi, Rita
utue.personen.roh	Toepf, Ana
utue.personen.roh	O'Connor, Kaela
utue.personen.roh	Sickmann, Albert
utue.personen.roh	Kohlschmidt, Nicolai
utue.personen.roh	El Gizouli, Magdeldin
utue.personen.roh	Meyer, Nancy
utue.personen.roh	Daya, Nassam
utue.personen.roh	Grande, Valentina
utue.personen.roh	Bois, Karin
utue.personen.roh	Kaiser, Frank J.
utue.personen.roh	Vorgerd, Matthias
utue.personen.roh	Schroeder, Christopher
utue.personen.roh	Schara-Schmidt, Ulrike
utue.personen.roh	Gangfuss, Andrea
utue.personen.roh	Evangelista, Teresinha
utue.personen.roh	Roebisch, Luisa
utue.personen.roh	Hentschel, Andreas
utue.personen.roh	Grueneboom, Anika
utue.personen.roh	Fuerst, Dieter O.
utue.personen.roh	Kuechler, Alma
utue.personen.roh	Tzschach, Andreas
utue.personen.roh	Depienne, Christel
utue.personen.roh	Lochmueller, Hanns
dcterms.isPartOf.ZSTitelID	Brain	de_DE
dcterms.isPartOf.ZS-Issue	10	de_DE
dcterms.isPartOf.ZS-Volume	146	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE