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AuthorBiancalana, Valeriedc.contributor.author
AuthorGlaeser, Dieterdc.contributor.author
AuthorMcQuaid, Shirleydc.contributor.author
AuthorSteinbach, Peterdc.contributor.author
Date of accession2020-01-22T14:02:22Zdc.date.accessioned
Available in OPARU since2020-01-22T14:02:22Zdc.date.available
Date of first publication2015dc.date.issued
Languageendc.language.iso
PublisherUniversität Ulmdc.publisher
KeywordPREMATURE OVARIAN FAILUREdc.subject
KeywordFULL-MUTATION ALLELESdc.subject
KeywordFMR1 GENEdc.subject
KeywordCGG REPEATdc.subject
KeywordTREMOR/ATAXIA SYNDROMEdc.subject
KeywordMENTAL-RETARDATIONdc.subject
KeywordNORMAL SIZEdc.subject
KeywordPATERNAL TRANSMISSIONdc.subject
KeywordPREMUTATION CARRIERSdc.subject
KeywordABNORMAL METHYLATIONdc.subject
Dewey Decimal GroupDDC 570 / Life sciencesdc.subject.ddc
TitleEMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disordersdc.title
Resource typeWissenschaftlicher Artikeldc.type
InstitutionUKU. Institut für Humangenetikuulm.affiliationSpecific
DCMI TypeTextuulm.typeDCMI
CategoryPublikationsnachweiseuulm.category
DOI (external)10.1038/ejhg.2014.185dc.identifier.doiExternal
Source - Title of sourceEuropean journal of human geneticssource.title
Source - Place of publicationNature Publishing Groupsource.publisher
Source - Volume23source.volume
Source - Issue4source.issue
Source - Year2015source.year
Source - From page417source.fromPage
Source - To page425source.toPage
Source - ISSN1018-4813source.identifier.issn
Source - eISSN1476-5438source.identifier.eissn
Open AccessOther Gold, Green Publisheduulm.OA
Suitable communityUniversitätsklinikum Ulmuulm.community
WoS000350878200003uulm.identifier.wos
University Bibliographyjauulm.unibibliographie


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