Show simple item record

AuthorLuehl, Simondc.contributor.author
AuthorBode, Haralddc.contributor.author
AuthorSchloetzer, Wiebkedc.contributor.author
AuthorBartsakoulia, Marinadc.contributor.author
AuthorHorvath, Ritadc.contributor.author
AuthorAbicht, Angeladc.contributor.author
AuthorStenzel, Martindc.contributor.author
AuthorKirschner, Janbernddc.contributor.author
AuthorGruenert, Sarah C.dc.contributor.author
Date of accession2019-04-09T04:53:54Zdc.date.accessioned
Available in OPARU since2019-04-09T04:53:54Zdc.date.available
Date of first publication2016dc.date.issued
Languageendc.language.iso
PublisherUniversität Ulmdc.publisher
KeywordMitochondrial diseasedc.subject
KeywordRARS2dc.subject
KeywordPontocerebellar hypoplasiadc.subject
KeywordOXPHOSdc.subject
KeywordMitochondrial arginyl transfer RNA synthetasedc.subject
Keywordfeaturesdc.subject
Dewey Decimal GroupDDC 610 / Medicine & healthdc.subject.ddc
TitleNovel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia - further expansion of the phenotypic spectrumdc.title
Resource typeWissenschaftlicher Artikeldc.type
InstitutionUKU. Klinik für Kinder- und Jugendmedizinuulm.affiliationSpecific
InstitutionUKU. Klinik für diagnostische und interventionelle Radiologieuulm.affiliationSpecific
DCMI TypeTextuulm.typeDCMI
CategoryPublikationsnachweiseuulm.category
DOI (external)10.1186/s13023-016-0525-9dc.identifier.doiExternal
Source - Title of sourceOrphanet Journal of Rare Diseasessource.title
Source - Place of publicationBMCsource.publisher
Source - Volume11source.volume
Source - Year2016source.year
Source - Article number140source.articleNumber
Source - ISSN1750-1172source.identifier.issn
FundingMedical Research Council [G1000848]uulm.funding
Open AccessDOAJ Gold, Green Publisheduulm.OA
Suitable communityUniversitätsklinikum Ulmuulm.community
WoS000385972500002uulm.identifier.wos


Files in this item

FilesSizeFormatView

There are no files associated with this item.

This item appears in the following Collection(s)

Show simple item record