D005198DisordersC12.777.419.250C12.777.419.815.450C13.351.968.419.250C13.351.968.419.815.450C16.320.565.861.450C18.452.648.861.450110.999262Fanconi Syndromeprns:fullNamefull nameprns:hasAuthorListauthor listprns:hasNetworkhas networkprns:hasPublicationVenuepublished inprns:informationResourceReferenceinformation resource referenceprns:isPrimaryPositionis primary positionprns:latitudelatitudeprns:longitudelongitudeprns:mainImagephotoprns: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 nameOrganizationPersonWake Forest School of MedicineAnthonyBleyerAnthony J. Bleyer MD, MS36.08959100000000-80.2685990000000010Bleyer, AnthonyProfessor27466185Hartmannová H, Piherová L, Tauchmannová K, Kidd K, Acott PD, Crocker JF, Oussedik Y, Mallet M, Hodanová K, Stránecký V, Pristoupilová A, Barešová V, Jedlicková I, Živná M, Sovová J, Hulková H, Robins V, Vrbacký M, Pecina P, Kaplanová V, Houštek J, Mrácek T, Thibeault Y, Bleyer AJ, Kmoch SHuman molecular geneticsHartmannová H, Piherová L, Tauchmannová K, Kidd K, Acott PD, Crocker JF, Oussedik Y, Mallet M, Hodanová K, Stránecký V, Pristoupilová A, Barešová V, Jedlicková I, Živná M, Sovová J, Hulková H, Robins V, Vrbacký M, Pecina P, Kaplanová V, Houštek J, Mrácek T, Thibeault Y, Bleyer AJ, Kmoch S. Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6. Hum Mol Genet. 2016 09 15; 25(18):4062-4079.Hum Mol Genet2016-07-27T00:00:002016Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.Internal Medicine, Nephrologytrue1ProfessorProfessor0.1475960.1475961research area of0.5908210.5908211subject area for