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AuthorKluwe, Landc.contributor.author
AuthorFriedrich, Reinhard E.dc.contributor.author
AuthorFarschtschi, Said C.dc.contributor.author
AuthorHagel, Christiandc.contributor.author
AuthorKehrer-Sawatzki, Hildegarddc.contributor.author
AuthorMautner, Victor-Felixdc.contributor.author
Date of accession2020-05-06T06:08:48Zdc.date.accessioned
Available in OPARU since2020-05-06T06:08:48Zdc.date.available
Date of first publication2020dc.date.issued
Languageendc.language.iso
PublisherUniversität Ulmdc.publisher
Keywordlipomadc.subject
Keywordmosaicismdc.subject
Keywordneurofibromatosis type 1dc.subject
KeywordNF1 deletiondc.subject
KeywordNONALLELIC HOMOLOGOUS RECOMBINATIONdc.subject
KeywordHIGH-FREQUENCYdc.subject
KeywordPHEOCHROMOCYTOMAdc.subject
KeywordIDENTIFICATIONdc.subject
KeywordPROPORTIONdc.subject
KeywordMUTATIONSdc.subject
KeywordREVEALSdc.subject
Dewey Decimal GroupDDC 570 / Life sciencesdc.subject.ddc
TitleNull phenotype of neurofibromatosis type 1 in a carrier of a heterozygous atypical NF1 deletion due to mosaicismdc.title
Resource typeWissenschaftlicher Artikeldc.type
InstitutionUKU. Institut für Humangenetikuulm.affiliationSpecific
DCMI TypeTextuulm.typeDCMI
CategoryPublikationsnachweiseuulm.category
DOI (external)10.1002/humu.24022dc.identifier.doiExternal
Source - Title of sourceHuman Mutationsource.title
Source - Place of publicationWileysource.publisher
Source - Year2020source.year
Source - ISSN1059-7794source.identifier.issn
Source - eISSN1098-1004source.identifier.eissn
Open AccessOther Golduulm.OA
CommunityUniversitätsklinikum Ulmuulm.community
WoS000525966300001uulm.identifier.wos
Bibliographyuulmuulm.bibliographie


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