Show simple item record

AuthorSukalo, Majadc.contributor.author
AuthorSchaeflein, Evadc.contributor.author
AuthorSchanze, Inadc.contributor.author
AuthorEverman, David B.dc.contributor.author
AuthorRezaei, Nimadc.contributor.author
AuthorArgente, Jesusdc.contributor.author
AuthorLorda-Sanchez, Isabeldc.contributor.author
AuthorDeshpande, Charudc.contributor.author
AuthorTakahashi, Tsutomudc.contributor.author
AuthorKleger, Alexanderdc.contributor.author
AuthorZenker, Martindc.contributor.author
Date of accession2018-12-04T13:31:20Zdc.date.accessioned
Available in OPARU since2018-12-04T13:31:20Zdc.date.available
Date of first publication2017dc.date.issued
Languageendc.language.iso
PublisherUniversität Ulmdc.publisher
Keywordautosomal recessivedc.subject
KeywordJohanson-Blizzard syndromedc.subject
KeywordMLPAdc.subject
Keywordmultiplex ligation-dependent probe amplificationdc.subject
KeywordUBR1dc.subject
Dewey Decimal GroupDDC 610 / Medicine & healthdc.subject.ddc
TitleExpanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysisdc.title
Resource typeWissenschaftlicher Artikeldc.type
InstitutionUKU. Klinik für Innere Medizin Iuulm.affiliationSpecific
DCMI TypeTextuulm.typeDCMI
CategoryPublikationsnachweiseuulm.category
DOI (external)10.1002/mgg3.319dc.identifier.doiExternal
Source - Title of sourceMolecular Genetics and Genomic Medicinesource.title
Source - Place of publicationWileysource.publisher
Source - Volume5source.volume
Source - Issue6source.issue
Source - Year2017source.year
Source - From page774source.fromPage
Source - To page780source.toPage
Source - ISSN2324-9269source.identifier.issn
FundingFritz Thyssen Stiftung [AZ 10.15.2.040MN]uulm.funding
Open Accessgolduulm.OA
Suitable communityUniversitätsklinikum Ulmuulm.community
WoS000418581200016uulm.identifier.wos
University Bibliographyjauulm.unibibliographie


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