15637732Currier SC, Lee CK, Chang BS, Bodell AL, Pai GS, Job L, Lagae LG, Al-Gazali LI, Eyaid WM, Enns G, Dobyns WB, Walsh CAAmerican journal of medical genetics. Part AAbnormalities, Multiple; Eye Abnormalities; Mannosyltransferases; Muscular Dystrophies; MutationBase Sequence; Chromosomes, Human, Pair 9; Consanguinity; DNA; DNA Mutational Analysis; Female; Genetic Linkage; Humans; Lod Score; Male; Microsatellite Repeats; Pedigree; Polymorphism, Single Nucleotide; SyndromeMutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome. Am J Med Genet A. 2005 Feb 15; 133A(1):53-7.Am J Med Genet A2005-02-15T00:00:002005Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.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 nameOrganizationPersonD000015Disorders842320.867856Abnormalities, MultipleD001483Chemicals & DrugsGenes & Molecular Sequences48123290.731431Base SequenceD003241Concepts & IdeasPhysiology29730.981311ConsanguinityD004252Procedures2265260.864607DNA Mutational AnalysisD002899Anatomy38860.964037Chromosomes, Human, Pair 9D004247Chemicals & Drugs36112930.643083DNAD005124Disorders14410.973637Eye AbnormalitiesD008364Chemicals & Drugs460.993677MannosyltransferasesD009154Physiology70239520.442682MutationD010375Concepts & Ideas1929660.83743PedigreeD005260Physiology1992444050.191184FemaleD006801Living Beings2262862810.130064HumansD013577Disorders2074460.911443SyndromeWilliamDobynsWilliam B. Dobyns0.000000000000000.000000000000002964Dobyns, WilliamPROFESSOR D008297Physiology1931408600.201635MaleD009136Disorders20540.968877Muscular DystrophiesD018895Chemicals & Drugs751410.954187Microsatellite RepeatsD008040Concepts & IdeasPhysiology1206230.858672Genetic LinkageD008126Concepts & Ideas401520.977031Lod ScoreD020641Genes & Molecular Sequences32223500.535662Polymorphism, Single NucleotideHuman GeneticsUniversity of Chicagotrue1PROFESSOR PROFESSOR Authorship 77115110.06645090.06645091authors10.2519has subject area