EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations

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dc.contributor.authorEggens, Veerle R.C.
dc.contributor.authorBarth, Peter G.
dc.contributor.authorNiermeijer, Jikke-Mien F.
dc.contributor.authorBerg, Jonathan N.
dc.contributor.authorDarin, Niklas
dc.contributor.authorDixit, Abhijit
dc.contributor.authorFluss, Joel
dc.contributor.authorFoulds, Nicola
dc.contributor.authorFowler, Darren
dc.contributor.authorHortobágyi, Tibor
dc.contributor.authorJacques, Thomas
dc.contributor.authorKing, Mary D.
dc.contributor.authorMakrythanasis, Periklis
dc.contributor.authorMáté, Adrienn
dc.contributor.authorNicoll, James A.R.
dc.contributor.authorO'Rourke, Declan
dc.contributor.authorPrice, Sue
dc.contributor.authorWilliams, Andrew N.
dc.contributor.authorWilson, Louise
dc.contributor.authorSuri, Mohnish
dc.contributor.authorSztriha, László
dc.contributor.authorDijns-de Wissel, Marit B.
dc.contributor.authorvan Meegen, Mia T.
dc.contributor.authorvan Ruissen, Fred
dc.contributor.authorAronica, Eleonora
dc.contributor.authorTroost, Dirk
dc.contributor.authorMajoie, Charles B.L.M.
dc.contributor.authorMarquering, Henk A.
dc.contributor.authorPoll-Thé, Bwee
dc.contributor.authorBaas, Frank
dc.date.accessioned2016-04-12T12:18:36Z
dc.date.available2016-04-12T12:18:36Z
dc.date.issued2014
dc.date.pasync2017-12-01T09:39:27Z
dc.date.updated2017-12-01T09:39:27Z
dc.identifier.citationOrphanet Journal of Rare Diseases. -9 : 23 (2014), p. 1-10. -Orphanet J. Rare Dis. - 1750-1172
dc.identifier.doihttp://dx.doi.org/10.1186/1750-1172-9-23
dc.identifier.issn1750-1172
dc.identifier.opachttp://webpac.lib.unideb.hu:8082/ebib/CorvinaWeb?action=cclfind&resultview=long&ccltext=idno+BIBFORM063340
dc.identifier.urihttp://hdl.handle.net/2437/224517
dc.identifier.urlhttp://www.ojrd.com/content/9/1/23
dc.languageeng
dc.rights.accessopen access journal
dc.rights.ownerBioMed Central
dc.subject.mabOrvostudományok
dc.subject.mabKlinikai orvostudományok
dc.titleEXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations
dc.typefolyóiratcikk
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