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study deletion patient children 11.2 fracture syndrome region chromosome lcr 22-c genet family duplication analysis bone mineral density palsy tbx 1 gene feature density examination level report factor tbx 1 child abnormality determinant metaphase / european journal genetic z-score probe department family members prevalence heart mutation delay netherland mineral defect bone density mother table palpebral fi ssures result month lcr 22-b phenotype anticonvulsant use evidence rauch incidence metaphase cgh risk factors system chromosome 2 dif ficulties clone population heart malformations ophthalmologic examination review microarray analysis malformations 2 q duplication pediatr member signi study design erasmus mc bmd z-scores article haploinsuf ficiency hypermetropic astigmatism family history henderson digeorge hypoplastic alae nasi genomic
3 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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Epidemiology of low bone mineral density and fractures in children with severe cerebral palsy: A systematic review
(Article)
Mergler, S. Evenhuis, H.M. Boot, A.M. Man, S.A. de Heus, K.G.C.B.B. Huijbers, W.A.R. Penning, C. |
2009-10-01
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A familial inverted duplication 2q33-q34 identified and delineated by multiple cytogenetic techniques
(Article)
Eussen, B.H.J. Laar, I.M.B.H. van de Douben, H. Kempen, L. van Hochstenbach, R. Man, S.A. de Opstal, D. van Klein, J.E.M.M. de Poddighe, P. |
2007-03-01
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