19251977Maselli RA, Ng JJ, Anderson JA, Cagney O, Arredondo J, Williams C, Wessel HB, Abdel-Hamid H, Wollmann RLJournal of medical geneticsLaminin; Mutation; Myasthenic Syndromes, CongenitalDNA Mutational Analysis; Eye Diseases, Hereditary; Female; Humans; Neuromuscular Junction; Young AdultMutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome. J Med Genet. 2009 Mar; 46(3):203-8.J Med Genet2009-03-01T00:00:002009Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic 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 nameOrganizationPersonD004252Procedures2265260.864587DNA Mutational AnalysisD009154Physiology70239520.442648MutationD009469Anatomy23800.949306Neuromuscular JunctionD007797Chemicals & Drugs43850.957695LamininD005260Physiology1992444050.191167FemaleAuthorship 374689D006801Living Beings2262862810.130052Humans0.351730.351731authors10.259has subject areaD015785Disorders780.989373Eye Diseases, HereditaryD020294Disorders4350.964435Myasthenic Syndromes, CongenitalD055815Living Beings97159610.423207Young AdultPathologyUniversity of ChicagoRobertWollmannRobert Wollmann41.78927490000000-87.601250000000001645Wollmann, RobertProfessor-Clinical Depttrue1Professor-Clinical DeptProfessor-Clinical Dept