D020417DisordersC10.292.562.675.300C11.590.400.300C16.614.643220.999389Nystagmus, Congenitalprns:fullNamefull nameprns:hasAuthorListauthor listprns:hasNetworkhas networkprns:hasPublicationVenuepublished inprns:informationResourceReferenceinformation resource referenceprns:isPrimaryPositionis primary positionprns:latitudelatitudeprns:longitudelongitudeprns:maxWeightmaximum weightprns:medlineTAjournal title abbreviationprns:meshDescriptorUIMeSH DescriptorUIprns:meshSemanticGroupNameMeSH semantic group nameprns:meshTreeNumberMeSH tree numberprns:minWeightminimum weightprns:numberOfAuthorsnumber of authorsprns:numberOfConnectionsnumber of connectionsprns:numberOfPublicationsnumber of publicationsprns:personIdPerson IDprns:personInPrimaryPositionperson in primary positionprns:positionInDepartmentposition in departmentprns:predicateNodepredicate nodeprns:publicationDatepublication dateprns:sortOrdersort orderprns:uniquenessWeightuniqueness weightprns:yearyearAcademic ArticleArticleDocumentbibo:pmidPubMed IdentifierDepartmentvivo:hrJobTitleHR job titleInformation ResourcePositionvivo:positionInOrganizationposition in organizationvivo:preferredTitlepreferred titlevivo:researchAreaOfresearch area ofvivo:subjectAreaForsubject area forrdf:predicatepredicaterdf:typetyperdfs:labellabelConceptAgentfoaf:firstNamefirst namefoaf:lastNamelast nameOrganizationPerson14661163Dumitrescu AM, Liao XH, Best TB, Brockmann K, Refetoff SAmerican journal of human geneticsA novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. Am J Hum Genet. 2004 Jan; 74(1):168-75.Am J Hum Genet2003-12-05T00:00:002003A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene.0.06111340.06111342research area of0.06115080.06115081subject area forUniversity of ChicagoSamuelRefetoffSamuel Refetoff41.78927490000000-87.60125000000000116Refetoff, SamuelEmeritus/EmeritaAlexandra M.DumitrescuAlexandra M. Dumitrescu41.78927490000000-87.60125000000000782Dumitrescu, Alexandra M.Associate Professortrue1Associate ProfessorAssociate Professortrue1Emeritus/EmeritaEmeritus/EmeritaMedicine-Endocrinology