17431900Zaki M, Shehab M, El-Aleem AA, Abdel-Salam G, Koeller HB, Ilkin Y, Ross ME, Dobyns WB, Gleeson JGAmerican journal of medical genetics. Part ACell Adhesion Molecules, Neuronal; Extracellular Matrix Proteins; Genes, Recessive; Mutation; Nerve Tissue Proteins; Serine Endopeptidases; Translocation, GeneticAbnormalities, Multiple; Brain; Brain Diseases; Child, Preschool; Chromosome Banding; Epilepsy; Female; Homozygote; Humans; Intellectual Disability; Male; Pedigree; Receptor Protein-Tyrosine Kinases; Reelin ProteinIdentification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation. Am J Med Genet A. 2007 May 01; 143A(9):939-44.Am J Med Genet A2007-05-01T00:00:002007Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation.prns:fullNamefull nameprns:hasAuthorListauthor listprns:hasNetworkhas networkprns:hasPublicationVenuepublished inprns:hasSubjectAreaMajorTopicListhas major subject area listprns:hasSubjectAreaMinorTopicListhas minor subject area listprns:informationResourceReferenceinformation resource referenceprns:isPrimaryPositionis primary positionprns:latitudelatitudeprns:longitudelongitudeprns:maxWeightmaximum weightprns:medlineTAjournal title abbreviationprns:meshDescriptorUIMeSH DescriptorUIprns:meshSemanticGroupNameMeSH semantic group nameprns: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 Identifiervivo:authorRankauthor rank in publicationAuthorshipDepartmentvivo:hasSubjectAreahas subject areavivo:hrJobTitleHR job titleInformation Resourcevivo:informationResourceInAuthorshipauthorsvivo:linkedAuthorlinked authorvivo:linkedInformationResourcelinked information resourcePositionvivo:positionInOrganizationposition in organizationvivo:preferredTitlepreferred titlerdf:predicatepredicaterdf:typetyperdfs:labellabelConceptAgentfoaf:firstNamefirst namefoaf:lastNamelast nameOrganizationPersonD000015Disorders842320.867835Abnormalities, MultipleD001927Disorders951800.88976Brain DiseasesD002871Procedures35740.988878Chromosome BandingD001921Anatomy49222110.472349BrainD006720Living Beings952000.950709HomozygoteD004827Disorders803950.728702EpilepsyD002675Living Beings65236080.594942Child, PreschoolD005808Genes & Molecular SequencesPhenomena46870.972247Genes, RecessiveD009419Chemicals & Drugs2005030.780094Nerve Tissue ProteinsD008607Disorders651850.890678Intellectual DisabilityD009154Physiology70239520.442648MutationD010375Concepts & Ideas1929660.837406PedigreeD005260Physiology1992444050.191167FemaleD006801Living Beings2262862810.130052HumansWilliamDobynsWilliam B. Dobyns0.000000000000000.000000000000002964Dobyns, WilliamPROFESSOR D008297Physiology1931408600.201617MaleD016326Chemicals & Drugs631230.937757Extracellular Matrix ProteinsD015816Chemicals & Drugs19290.98643Cell Adhesion Molecules, NeuronalD020794Chemicals & Drugs761530.900016Receptor Protein-Tyrosine KinasesD012697Chemicals & Drugs671450.930415Serine EndopeptidasesD014178Physiology902650.907259Translocation, GeneticHuman GeneticsUniversity of Chicagotrue1PROFESSOR PROFESSOR Authorship 7747580.07743360.07743361authors10.2520has subject area