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AuthorMeester, Josephina A. N.dc.contributor.author
AuthorSukalo, Majadc.contributor.author
AuthorSchroeder, Kim C.dc.contributor.author
AuthorSchanze, Dennydc.contributor.author
AuthorBaynam, Garethdc.contributor.author
AuthorBorck, Guntramdc.contributor.author
AuthorBramswig, Nuria C.dc.contributor.author
AuthorDuman, Duygudc.contributor.author
AuthorGilbert-Dussardier, Brigittedc.contributor.author
AuthorHolder-Espinasse, Murieldc.contributor.author
AuthorItin, Peterdc.contributor.author
AuthorJohnson, Diana S.dc.contributor.author
AuthorJoss, Shelaghdc.contributor.author
AuthorKoillinen, Hanneledc.contributor.author
AuthorMcKenzie, Fionadc.contributor.author
AuthorMorton, Jennydc.contributor.author
AuthorNelle, Heikedc.contributor.author
AuthorReardon, Williedc.contributor.author
AuthorRoll, Claudiadc.contributor.author
AuthorSalih, Mustafa A.dc.contributor.author
AuthorSavarirayan, Ravidc.contributor.author
AuthorScurr, Ingriddc.contributor.author
AuthorSplitt, Mirandadc.contributor.author
AuthorThompson, Elizabethdc.contributor.author
AuthorTitheradge, Hannahdc.contributor.author
AuthorTravers, Colm P.dc.contributor.author
AuthorVan Maldergem, Lioneldc.contributor.author
AuthorWhiteford, Margodc.contributor.author
AuthorWieczorek, Dagmardc.contributor.author
AuthorVandeweyer, Geertdc.contributor.author
AuthorTrembath, Richarddc.contributor.author
AuthorVan Laer, Lutdc.contributor.author
AuthorLoeys, Bart L.dc.contributor.author
AuthorZenker, Martindc.contributor.author
AuthorSouthgate, Lauradc.contributor.author
AuthorWuyts, Wimdc.contributor.author
Date of accession2019-05-07T09:19:29Zdc.date.accessioned
Available in OPARU since2019-05-07T09:19:29Zdc.date.available
Date of first publication2018dc.date.issued
Languageendc.language.iso
PublisherUniversität Ulmdc.publisher
KeywordAdams-Oliver syndromedc.subject
Keywordgeneticsdc.subject
Keywordmutation screeningdc.subject
KeywordNotch signalingdc.subject
KeywordRho GTPasedc.subject
Keywordaplasia-cutis-congenitadc.subject
Keywordof-function mutationsdc.subject
Keywordclinical phenotypesdc.subject
Keywordmissense mutationsdc.subject
Keywordlimb defectsdc.subject
Keywordnotch1dc.subject
Keywordanomaliesdc.subject
Keywordvariantsdc.subject
Keyworddomainsdc.subject
Keywordassociationdc.subject
Dewey Decimal GroupDDC 570 / Life sciencesdc.subject.ddc
Dewey Decimal GroupDDC 610 / Medicine & healthdc.subject.ddc
TitleElucidating the genetic architecture of Adams-Oliver syndrome in a large European cohortdc.title
Resource typeWissenschaftlicher Artikeldc.type
InstitutionUKU. Institut für Humangenetikuulm.affiliationSpecific
DCMI TypeTextuulm.typeDCMI
CategoryPublikationsnachweiseuulm.category
DOI (external)10.1002/humu.23567dc.identifier.doiExternal
Source - Title of sourceHuman Mutationsource.title
Source - Place of publicationWileysource.publisher
Source - Volume39source.volume
Source - Issue9source.issue
Source - Year2018source.year
Source - From page1246source.fromPage
Source - To page1261source.toPage
Source - ISSN1059-7794source.identifier.issn
Source - eISSN1098-1004source.identifier.eissn
Open AccessGreen Publisheduulm.OA
Suitable communityUniversitätsklinikum Ulmuulm.community
WoS000443229000009uulm.identifier.wos
University Bibliographyjauulm.unibibliographie


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