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American Journal of Medical Genetics. Part A|October 17, 2008
Two further cases of spondyloenchondrodysplasia (SPENCD) with immune dysregulationV Navarro, C Scott, T A Briggs, et al.
American Journal of Medical Genetics. Part A|April 27, 2004
Early diagnosis of Wolf-Hirschhorn syndrome triggered by a life-threatening event: congenital diaphragmatic herniaM F van Dooren, A S Brooks, A J M Hoogeboom, et al.
Journal of Medical Genetics|December 4, 2009
Phenotype-genotype correlation in a familial IGF1R microdeletion caseD C M Veenma, H J Eussen, L C P Govaerts, et al.
American Journal of Medical Genetics|October 26, 1999
Submicroscopic Xpter deletion in a boy with growth and mental retardation caused by a familial t(X;14)B B de Vries, B H Eussen, O P van Diggelen, et al.
Human Reproduction (Oxford, England)|April 13, 2010
Consecutive or non-consecutive recurrent miscarriage: is there any difference in carrier status?E van den Boogaard, S P Kaandorp, M T M Franssen, et al.
American Journal of Medical Genetics|August 3, 2001
Deletions at chromosome regions 7q11.23 and 7q36 in a patient with Williams syndromeC H Wouters, H J Meijers-Heijboer, B J Eussen, et al.
Nederlands Tijdschrift Voor Geneeskunde|May 3, 2007
[Risk factors for structural chromosomal abnormality in > or = 2 miscarriages, as an instrument for selective karyotyping]M T M Franssen, J C Korevaar, N J Leschot, et al.
Neurology|November 29, 2008
FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndromeA Di Fonzo, M C J Dekker, P Montagna, et al.
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