Sylvia De Bie
No current affiliation with UGent
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Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon
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Unequivocal delineation of clinicogenetic subgroups and development of a new model for improved outcome prediction in neuroblastoma
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DUP25 remains unconfirmed
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Kallmann syndrome in a patient with congenital spherocytosis and an interstitial 8p11.2 deletion.
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Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.
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Carrier screening for cystic fibrosis in a prenatal setting.
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Association between Cys282Tyr missense mutation and haptoglobin phenotype polymorphism in patients with chronic hepatitis C.
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Refined genetic and physical mapping of BPES type II
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Linkage: a primer for dermatologists
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Diagnosis of human peroxisomal disorders. A handbook