25218063Kakar N, Ahmad J, Morris-Rosendahl DJ, Altmüller J, Friedrich K, Barbi G, Nürnberg P, Kubisch C, Dobyns WB, Borck GHuman geneticsHoloprosencephaly; Intracellular Signaling Peptides and Proteins; Microcephaly; MutationAdolescent; Adult; Child, Preschool; Consanguinity; Female; Humans; Infant; Male; Pakistan; Young AdultSTIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly. Hum Genet. 2015 Jan; 134(1):45-51.Hum Genet2014-09-14T00:00:002014STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly.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 nameOrganizationPersonD000293Living Beings111389680.400538AdolescentD000328Living Beings1578255770.254432AdultD003241Concepts & IdeasPhysiology29730.981308ConsanguinityD002675Living Beings65236080.594942Child, PreschoolD007223Living Beings60430360.61304InfantD008831Disorders19750.955447MicrocephalyD009154Physiology70239520.442648MutationD005260Physiology1992444050.191167FemaleD006801Living Beings2262862810.130052HumansD016142Disorders6110.990859HoloprosencephalyWilliamDobynsWilliam B. Dobyns0.000000000000000.000000000000002964Dobyns, WilliamPROFESSOR D008297Physiology1931408600.201617MaleD047908Chemicals & Drugs1833780.829617Intracellular Signaling Peptides and ProteinsD010154Geographic Areas15150.995111PakistanD055815Living Beings97159610.423207Young AdultHuman GeneticsUniversity of Chicagotrue1PROFESSOR PROFESSOR Authorship 6968170.1290860.1290861authors10.2514has subject area