http://purl.uniprot.org/citations/11173846 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/11173846 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/11173846 | http://www.w3.org/2000/01/rdf-schema#comment | "Non-syndromic trigonocephaly is a heterogeneous entity; in most cases the origin is unknown. Rare cases with autosomal dominant and recessive inheritance exist. Here the mutational screening of ten patients in the FGFR1, 2, and 3 genes and the TWIST gene causative of autosomal dominant craniosynostosis syndromes was reported. In one girl an unusual FGFR1 mutation was found."xsd:string |
http://purl.uniprot.org/citations/11173846 | http://purl.org/dc/terms/identifier | "doi:10.1159/000056834"xsd:string |
http://purl.uniprot.org/citations/11173846 | http://purl.org/dc/terms/identifier | "doi:10.1159/000056834"xsd:string |
http://purl.uniprot.org/citations/11173846 | http://purl.uniprot.org/core/author | "Grimm T."xsd:string |
http://purl.uniprot.org/citations/11173846 | http://purl.uniprot.org/core/author | "Grimm T."xsd:string |
http://purl.uniprot.org/citations/11173846 | http://purl.uniprot.org/core/author | "Kress W."xsd:string |
http://purl.uniprot.org/citations/11173846 | http://purl.uniprot.org/core/author | "Kress W."xsd:string |
http://purl.uniprot.org/citations/11173846 | http://purl.uniprot.org/core/author | "Collmann H."xsd:string |
http://purl.uniprot.org/citations/11173846 | http://purl.uniprot.org/core/author | "Collmann H."xsd:string |
http://purl.uniprot.org/citations/11173846 | http://purl.uniprot.org/core/author | "Petersen B."xsd:string |
http://purl.uniprot.org/citations/11173846 | http://purl.uniprot.org/core/author | "Petersen B."xsd:string |
http://purl.uniprot.org/citations/11173846 | http://purl.uniprot.org/core/date | "2000"xsd:gYear |
http://purl.uniprot.org/citations/11173846 | http://purl.uniprot.org/core/date | "2000"xsd:gYear |
http://purl.uniprot.org/citations/11173846 | http://purl.uniprot.org/core/name | "Cytogenet. Cell Genet."xsd:string |
http://purl.uniprot.org/citations/11173846 | http://purl.uniprot.org/core/name | "Cytogenet. Cell Genet."xsd:string |
http://purl.uniprot.org/citations/11173846 | http://purl.uniprot.org/core/pages | "138-140"xsd:string |
http://purl.uniprot.org/citations/11173846 | http://purl.uniprot.org/core/pages | "138-140"xsd:string |
http://purl.uniprot.org/citations/11173846 | http://purl.uniprot.org/core/title | "An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly."xsd:string |
http://purl.uniprot.org/citations/11173846 | http://purl.uniprot.org/core/title | "An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly."xsd:string |
http://purl.uniprot.org/citations/11173846 | http://purl.uniprot.org/core/volume | "91"xsd:string |
http://purl.uniprot.org/citations/11173846 | http://purl.uniprot.org/core/volume | "91"xsd:string |
http://purl.uniprot.org/citations/11173846 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/11173846 |
http://purl.uniprot.org/citations/11173846 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/11173846 |