pubmed-article:18484313 | rdf:type | pubmed:Citation | lld:pubmed |
pubmed-article:18484313 | lifeskim:mentions | umls-concept:C0000769 | lld:lifeskim |
pubmed-article:18484313 | lifeskim:mentions | umls-concept:C1522230 | lld:lifeskim |
pubmed-article:18484313 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
pubmed-article:18484313 | lifeskim:mentions | umls-concept:C0265354 | lld:lifeskim |
pubmed-article:18484313 | lifeskim:mentions | umls-concept:C1314792 | lld:lifeskim |
pubmed-article:18484313 | lifeskim:mentions | umls-concept:C1427038 | lld:lifeskim |
pubmed-article:18484313 | pubmed:issue | 2 | lld:pubmed |
pubmed-article:18484313 | pubmed:dateCreated | 2008-5-19 | lld:pubmed |
pubmed-article:18484313 | pubmed:abstractText | To report new findings in the CHARGE syndrome with phenotypic anomalies associated with the R2319C mutation in the CHD7 gene. | lld:pubmed |
pubmed-article:18484313 | pubmed:language | eng | lld:pubmed |
pubmed-article:18484313 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:18484313 | pubmed:citationSubset | IM | lld:pubmed |
pubmed-article:18484313 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:18484313 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:18484313 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:18484313 | pubmed:status | MEDLINE | lld:pubmed |
pubmed-article:18484313 | pubmed:month | Jun | lld:pubmed |
pubmed-article:18484313 | pubmed:issn | 1744-5094 | lld:pubmed |
pubmed-article:18484313 | pubmed:author | pubmed-author:HolakHeinrich... | lld:pubmed |
pubmed-article:18484313 | pubmed:author | pubmed-author:HolakSophie... | lld:pubmed |
pubmed-article:18484313 | pubmed:author | pubmed-author:KohlhaseJurge... | lld:pubmed |
pubmed-article:18484313 | pubmed:author | pubmed-author:HolakNikolai... | lld:pubmed |
pubmed-article:18484313 | pubmed:issnType | Electronic | lld:pubmed |
pubmed-article:18484313 | pubmed:volume | 29 | lld:pubmed |
pubmed-article:18484313 | pubmed:owner | NLM | lld:pubmed |
pubmed-article:18484313 | pubmed:authorsComplete | Y | lld:pubmed |
pubmed-article:18484313 | pubmed:pagination | 79-84 | lld:pubmed |
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pubmed-article:18484313 | pubmed:meshHeading | pubmed-meshheading:18484313... | lld:pubmed |
pubmed-article:18484313 | pubmed:meshHeading | pubmed-meshheading:18484313... | lld:pubmed |
pubmed-article:18484313 | pubmed:year | 2008 | lld:pubmed |
pubmed-article:18484313 | pubmed:articleTitle | New recognized ophthalmic morphologic anomalies in CHARGE syndrome caused by the R2319C mutation in the CHD7 gene. | lld:pubmed |
pubmed-article:18484313 | pubmed:affiliation | Augenklinik Salzgitter, Salzgitter, Germany. | lld:pubmed |
pubmed-article:18484313 | pubmed:publicationType | Journal Article | lld:pubmed |
pubmed-article:18484313 | pubmed:publicationType | Case Reports | lld:pubmed |
entrez-gene:55636 | entrezgene:pubmed | pubmed-article:18484313 | lld:entrezgene |
http://linkedlifedata.com/r... | entrezgene:pubmed | pubmed-article:18484313 | lld:entrezgene |