Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I

Braunisch, M. C.; Gallwitz, H.; Abicht, A.; Diebold, I.; Holinski-Feder, E.; Van Maldergem, L.; Lammens, M.; Kovacs-Nagy, R.; Alhaddad, B.; Strom, T. M.; Meitinger, T.; Senderek, J.; Rudnik-Schoeneborn, S.; Haack, T. B.

dc.contributor.author	Haack, Tobias
dc.date.accessioned	2020-01-08T16:18:49Z
dc.date.available	2020-01-08T16:18:49Z
dc.date.issued	2018
dc.identifier.issn	1399-0004
dc.identifier.uri	http://hdl.handle.net/10900/96819
dc.language.iso	en	de_DE
dc.publisher	Wiley	de_DE
dc.relation.uri	http://dx.doi.org/10.1111/cge.13084	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I	de_DE
dc.type	Article	de_DE
utue.quellen.id	20190321153956_03915
utue.publikation.seiten	255-265	de_DE
utue.personen.roh	Braunisch, M. C.
utue.personen.roh	Gallwitz, H.
utue.personen.roh	Abicht, A.
utue.personen.roh	Diebold, I.
utue.personen.roh	Holinski-Feder, E.
utue.personen.roh	Van Maldergem, L.
utue.personen.roh	Lammens, M.
utue.personen.roh	Kovacs-Nagy, R.
utue.personen.roh	Alhaddad, B.
utue.personen.roh	Strom, T. M.
utue.personen.roh	Meitinger, T.
utue.personen.roh	Senderek, J.
utue.personen.roh	Rudnik-Schoeneborn, S.
utue.personen.roh	Haack, T. B.
dcterms.isPartOf.ZSTitelID	Clinical Genetics	de_DE
dcterms.isPartOf.ZS-Issue	2	de_DE
dcterms.isPartOf.ZS-Volume	93	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE