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deletion patient 11.2 syndrome lcr 22-c tbx 1 gene family genet analysis feature tbx 1 examination family members heart region mutation abnormality defect palpebral fi ssures lcr 22-b rauch heart malformations microarray analysis malformations member chromosome haploinsuf ficiency family history delay hypoplastic alae nasi phenotype digeorge 22 q 11.2 1.5 mb deletion mcdonald-mcginn microarray month lcr 22-d 1.5 history genetics part anomaly ultrasound ultrasound examinations ophthalmologic examination fish analysis emanuel bs microdeletion probe emanuel identi tract haploinsuf garcia-minaur study fication genetic zweier disorder report lindsay verhagen scambler p lcr 22-a department septal 2001. outlet right ventricle ficiency zweier c netherland mutation analysis driscoll da del 22q syndrome scambler scambler pj goldmuntz e atrial septal defect ptosi 401 kb microdeletion
1 Most Recent Publications
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Phenotypic variability of atypical 22q11.2 deletions not including TBX1
(Article)
Verhagen, J.M.A. Diderich, K. Srebniak, M. Opstal, D. van Hulsman, L.O. Zutven, L.J.C.M. van Wessels, M.W. Oudesluijs, G.G. Mancini, G.M.S. Eggink, A.J. Verkleij-Hagoort , A.C. Groenenberg, I.A.L. Willems, P.J. Du Plessis, F. Man, S.A. de |
2012-10-01
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