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

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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 Artikel 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


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