Publication:
Spectrum of Phenotypic Findings in Individuals with Joubert Syndrome and Clinical Correlation with Identified Mutations in the NPHP1,AHI1, and RPGRIP1L Genes

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dc.contributor.authorParisi, Melissa A.
dc.contributor.authorDoherty, Daniel
dc.contributor.authorArts, Heleen H.
dc.contributor.authorGorden, Nicholas T.
dc.contributor.authorEckert, Melissa L.
dc.contributor.authorShaw, Dennis W. W.
dc.contributor.authorGlass, Ian A.
dc.contributor.authorIDRoepman, Ronald/0000-0002-5178-8163
dc.contributor.authorIDDobyns, William/0000-0002-7681-2844
dc.date.accessioned2020-06-21T15:18:31Z
dc.date.available2020-06-21T15:18:31Z
dc.date.issued2007
dc.departmentOMÜen_US
dc.department-tempChildrens Hosp & Reg Med Ctr, Dept Pediat, Seattle, WA USA -- Childrens Hosp & Reg Med Ctr, Dept Radiol, Seattle, WA USA -- Radboud Univ Nijmegen Med Ctr, Dept Human Genet, Nijmegen, Netherlands -- Univ Washington, Sch Med, Seattle, WA 98195 USA -- Ondokuz Mayis Univ, Dept Pediat, Samsun, Turkey -- Dokuz Eylul Univ, Dept Pediat Genet, Izmir, Turkey -- Riyadh Armed Forces Hosp, Dept Paediat, Riyadh, Saudi Arabiaen_US
dc.description132nd Annual Meeting of the American-Neurological-Association -- OCT 07-10, 2007 -- Washington, DCen_US
dc.description.abstract…en_US
dc.description.sponsorshipAmer Neurol Assocen_US
dc.identifier.endpage538en_US
dc.identifier.issn0364-5134
dc.identifier.issue5en_US
dc.identifier.startpage537en_US
dc.identifier.urihttps://hdl.handle.net/20.500.12712/19700
dc.identifier.volume62en_US
dc.identifier.wosWOS:000251383300035
dc.language.isoenen_US
dc.publisherWiley-Lissen_US
dc.relation.journalAnnals of Neurologyen_US
dc.relation.publicationcategoryKonferans Öğesi - Uluslararası - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.titleSpectrum of Phenotypic Findings in Individuals with Joubert Syndrome and Clinical Correlation with Identified Mutations in the NPHP1,AHI1, and RPGRIP1L Genesen_US
dc.typeConference Objecten_US
dspace.entity.typePublication

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