Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency

Puusepp, Sanna; Kovacs-Nagy, Reka; Alhaddad, Bader; Braunisch, Matthias; Hoffmann, Georg F.; Kotzaeridou, Urania; Lichvarova, Lucia; Liiv, Mailis; Makowski, Christine; Mandel, Merle; Meitinger, Thomas; Pajusalu, Sander; Rodenburg, Richard J.; Safiulina, Dzhamilja; Strom, Tim M.; Talvik, Inga; Vaarmann, Annika; Wilson, Callum; Kaasik, Allen; Haack, Tobias B.; Ounap, Katrin

dc.contributor.author	Haack, Tobias
dc.date.accessioned	2019-11-19T11:28:06Z
dc.date.available	2019-11-19T11:28:06Z
dc.date.issued	2018
dc.identifier.issn	1476-5438
dc.identifier.uri	http://hdl.handle.net/10900/94988
dc.language.iso	en	de_DE
dc.publisher	Nature Publishing Group	de_DE
dc.relation.uri	http://dx.doi.org/10.1038/s41431-017-0001-6	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency	de_DE
dc.type	Article	de_DE
utue.quellen.id	20190321153956_03554
utue.publikation.seiten	407-419	de_DE
utue.personen.roh	Puusepp, Sanna
utue.personen.roh	Kovacs-Nagy, Reka
utue.personen.roh	Alhaddad, Bader
utue.personen.roh	Braunisch, Matthias
utue.personen.roh	Hoffmann, Georg F.
utue.personen.roh	Kotzaeridou, Urania
utue.personen.roh	Lichvarova, Lucia
utue.personen.roh	Liiv, Mailis
utue.personen.roh	Makowski, Christine
utue.personen.roh	Mandel, Merle
utue.personen.roh	Meitinger, Thomas
utue.personen.roh	Pajusalu, Sander
utue.personen.roh	Rodenburg, Richard J.
utue.personen.roh	Safiulina, Dzhamilja
utue.personen.roh	Strom, Tim M.
utue.personen.roh	Talvik, Inga
utue.personen.roh	Vaarmann, Annika
utue.personen.roh	Wilson, Callum
utue.personen.roh	Kaasik, Allen
utue.personen.roh	Haack, Tobias B.
utue.personen.roh	Ounap, Katrin
dcterms.isPartOf.ZSTitelID	European Journal of Human Genetics	de_DE
dcterms.isPartOf.ZS-Issue	3	de_DE
dcterms.isPartOf.ZS-Volume	26	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE