29337005Leibovitz Z, Mandel H, Falik-Zaccai TC, Ben Harouch S, Savitzki D, Krajden-Haratz K, Gindes L, Tamarkin M, Lev D, Dobyns WB, Lerman-Sagie TEuropean journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyBrain; Dystroglycans; Walker-Warburg SyndromeConsanguinity; Female; Frameshift Mutation; Homozygote; Humans; Magnetic Resonance Imaging; Male; Phenotype; Pregnancy; Tomography, X-Ray Computed; Ultrasonography, PrenatalWalker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation. Eur J Paediatr Neurol. 2018 May; 22(3):525-531.Eur J Paediatr Neurol2017-12-26T00:00:002017Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation.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 nameOrganizationPersonD001921Anatomy49222110.472349BrainD006720Living Beings952000.950709HomozygoteD003241Concepts & IdeasPhysiology29730.981308ConsanguinityAuthorship 120418100.1620680.1620681authors10.2514has subject areaD011247Physiology54828850.586657PregnancyD005260Physiology1992444050.191167FemaleD006801Living Beings2262862810.130052HumansD014057Procedures54325940.47349Tomography, X-Ray ComputedWilliamDobynsWilliam B. Dobyns0.000000000000000.000000000000002964Dobyns, WilliamPROFESSOR D008297Physiology1931408600.201617MaleD016216Procedures481520.89822Ultrasonography, PrenatalD049030Chemicals & Drugs9150.990556DystroglycansD016368Physiology34510.98278Frameshift MutationD058494Disorders250.997432Walker-Warburg SyndromeD008279Concepts & IdeasProcedures53033470.417684Magnetic Resonance ImagingD010641Physiology64723750.615854PhenotypeHuman GeneticsUniversity of Chicagotrue1PROFESSOR PROFESSOR