| pubmed-article:12544472 | rdf:type | pubmed:Citation | lld:pubmed |
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| pubmed-article:12544472 | lifeskim:mentions | umls-concept:C0009331 | lld:lifeskim |
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| pubmed-article:12544472 | lifeskim:mentions | umls-concept:C1708726 | lld:lifeskim |
| pubmed-article:12544472 | lifeskim:mentions | umls-concept:C1413580 | lld:lifeskim |
| pubmed-article:12544472 | lifeskim:mentions | umls-concept:C0017431 | lld:lifeskim |
| pubmed-article:12544472 | lifeskim:mentions | umls-concept:C0031437 | lld:lifeskim |
| pubmed-article:12544472 | lifeskim:mentions | umls-concept:C0265253 | lld:lifeskim |
| pubmed-article:12544472 | lifeskim:mentions | umls-concept:C0678226 | lld:lifeskim |
| pubmed-article:12544472 | lifeskim:mentions | umls-concept:C1333079 | lld:lifeskim |
| pubmed-article:12544472 | lifeskim:mentions | umls-concept:C1707520 | lld:lifeskim |
| pubmed-article:12544472 | lifeskim:mentions | umls-concept:C0205453 | lld:lifeskim |
| pubmed-article:12544472 | pubmed:issue | 1 | lld:pubmed |
| pubmed-article:12544472 | pubmed:dateCreated | 2003-1-24 | lld:pubmed |
| pubmed-article:12544472 | pubmed:abstractText | To evaluate a cohort of clinically diagnosed Stickler patients in which the causative mutation has been identified, determine the prevalence of clinical features in this group as a whole and as a function of age, and look for genotype/phenotype correlations. | lld:pubmed |
| pubmed-article:12544472 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:12544472 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:12544472 | pubmed:language | eng | lld:pubmed |
| pubmed-article:12544472 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:12544472 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:12544472 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:12544472 | pubmed:issn | 1098-3600 | lld:pubmed |
| pubmed-article:12544472 | pubmed:author | pubmed-author:GriffithAndre... | lld:pubmed |
| pubmed-article:12544472 | pubmed:author | pubmed-author:FrancomanoCla... | lld:pubmed |
| pubmed-article:12544472 | pubmed:author | pubmed-author:RosePeter SPS | lld:pubmed |
| pubmed-article:12544472 | pubmed:author | pubmed-author:Szymko-Bennet... | lld:pubmed |
| pubmed-article:12544472 | pubmed:author | pubmed-author:DavisJoieJ | lld:pubmed |
| pubmed-article:12544472 | pubmed:author | pubmed-author:LevyHoward... | lld:pubmed |
| pubmed-article:12544472 | pubmed:author | pubmed-author:WilkinDouglas... | lld:pubmed |
| pubmed-article:12544472 | pubmed:author | pubmed-author:LiberfarbRuth... | lld:pubmed |
| pubmed-article:12544472 | pubmed:author | pubmed-author:BalogJoan ZJZ | lld:pubmed |
| pubmed-article:12544472 | pubmed:author | pubmed-author:JohnstonJenni... | lld:pubmed |
| pubmed-article:12544472 | pubmed:author | pubmed-author:TsilouEkateri... | lld:pubmed |
| pubmed-article:12544472 | pubmed:author | pubmed-author:RubinBenhamin... | lld:pubmed |
| pubmed-article:12544472 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:12544472 | pubmed:volume | 5 | lld:pubmed |
| pubmed-article:12544472 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:12544472 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:12544472 | pubmed:pagination | 21-7 | lld:pubmed |
| pubmed-article:12544472 | pubmed:dateRevised | 2007-11-15 | lld:pubmed |
| pubmed-article:12544472 | pubmed:meshHeading | pubmed-meshheading:12544472... | lld:pubmed |
| pubmed-article:12544472 | pubmed:meshHeading | pubmed-meshheading:12544472... | lld:pubmed |
| pubmed-article:12544472 | pubmed:meshHeading | pubmed-meshheading:12544472... | lld:pubmed |
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| pubmed-article:12544472 | pubmed:meshHeading | pubmed-meshheading:12544472... | lld:pubmed |
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| pubmed-article:12544472 | pubmed:meshHeading | pubmed-meshheading:12544472... | lld:pubmed |
| pubmed-article:12544472 | pubmed:meshHeading | pubmed-meshheading:12544472... | lld:pubmed |
| pubmed-article:12544472 | pubmed:meshHeading | pubmed-meshheading:12544472... | lld:pubmed |
| pubmed-article:12544472 | pubmed:meshHeading | pubmed-meshheading:12544472... | lld:pubmed |
| pubmed-article:12544472 | pubmed:meshHeading | pubmed-meshheading:12544472... | lld:pubmed |
| pubmed-article:12544472 | pubmed:meshHeading | pubmed-meshheading:12544472... | lld:pubmed |
| pubmed-article:12544472 | pubmed:articleTitle | The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1. | lld:pubmed |
| pubmed-article:12544472 | pubmed:affiliation | Genetics and Teratology Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA. | lld:pubmed |
| pubmed-article:12544472 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:12544472 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:12544472 | pubmed:publicationType | Review | lld:pubmed |
| pubmed-article:12544472 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:12544472 | lld:pubmed |
