18716235

Source:http://linkedlifedata.com/resource/pubmed/id/18716235

Download in:

Switch to

Custom View

Named Graph Language Inference

Statements in which the resource exists as a subject.
Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0000768, umls-concept:C0006104, umls-concept:C0017982, umls-concept:C0205349, umls-concept:C0268355, umls-concept:C1744681
pubmed:issue	20
pubmed:dateCreated	2008-11-12
pubmed:abstractText	To delineate a new syndrome of brain dysgenesis and cutis laxa based on the description of 11 patients belonging to nine unrelated families recruited through an international collaboration effort.
pubmed:commentsCorrections	http://linkedlifedata.com/resource/pubmed/commentcorrection/18716235-19805737
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/0401060
pubmed:citationSubset	AIM
pubmed:status	MEDLINE
pubmed:month	Nov
pubmed:issn	1526-632X
pubmed:author	pubmed-author:Basel-VanagaiteLL, pubmed-author:DobynsW BWB, pubmed-author:FoulonMM, pubmed-author:GiurgeaSS, pubmed-author:GreallyMM, pubmed-author:JaekenJJ, pubmed-author:KayseriliHH, pubmed-author:Leao-TelesEE, pubmed-author:MundlosSS, pubmed-author:SeemanovaEE, pubmed-author:Van MaldergemLL, pubmed-author:VigneronJJ, pubmed-author:Yuksel-ApakMM
pubmed:issnType	Electronic
pubmed:day	11
pubmed:volume	71
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	1602-8
pubmed:dateRevised	2009-10-6
pubmed:meshHeading	pubmed-meshheading:18716235-Adolescent, pubmed-meshheading:18716235-Brain, pubmed-meshheading:18716235-Child, pubmed-meshheading:18716235-Child, Preschool, pubmed-meshheading:18716235-Congenital Abnormalities, pubmed-meshheading:18716235-Cutis Laxa, pubmed-meshheading:18716235-Dandy-Walker Syndrome, pubmed-meshheading:18716235-Electrophoresis, Capillary, pubmed-meshheading:18716235-Female, pubmed-meshheading:18716235-Glycosylation, pubmed-meshheading:18716235-Humans, pubmed-meshheading:18716235-Infant, pubmed-meshheading:18716235-Infant, Newborn, pubmed-meshheading:18716235-Isoelectric Focusing, pubmed-meshheading:18716235-Longitudinal Studies, pubmed-meshheading:18716235-Magnetic Resonance Imaging, pubmed-meshheading:18716235-Male, pubmed-meshheading:18716235-Young Adult
pubmed:year	2008
pubmed:articleTitle	Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type.
pubmed:affiliation	Centre de Génétique Humaine, CHU Sart-Tilman, Université de Liège, 4000 Liège, Belgium. vmald@skypro.be
pubmed:publicationType	Journal Article