Verstraelen, Hans, Verhelst, Rita, Nuytinck, Lieve, Roelens, Kristien, De Meester, Els, De Vos, Daniel, ...
Host genetic factors have previously been found to act as determinants of differential susceptibility to major infectious diseases. It is less clear whether such polymorphisms may also impose on...
An interstitial deletion of chromosome 7 at band q21: a case report and review (2005)
Vermeulen, Stefan, Messiaen, Ludwine, Nuytinck, Lieve, ...
We report on a girl with moderate developmental delay and mild dysmorphic features. Cytogenetic investigations revealed a de novo interstitial deletion at the proximal dark band on the long arm of...
Email Alerting, Geert R Mortier, Maryann Weis, Lieve Nuytinck, Lily M King, Douglas J Wilkin, ...
Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder
Email Alerting, Lieve Nuytinck, Turgut Tükel, Hülya Kayserili, Memnune Yüksel Apak, Anne De, ...
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Classical Ehlers-Danlos Syndrome Caused by a Mutation in Type I Collagen
Nuytinck, Lieve, Freund, Margarida, Lagae, Lieven, Pierard, Gerald E., Hermanns-Le, Trinh, De Paepe, Anne
Classical Ehlers-Danlos syndrome (EDS) is characterized by skin hyperelasticity, joint hypermobility, increased tendency to bruise, and abnormal scarring. Mutations in type V collagen, a regulator of...
Classical Ehlers-Danlos Syndrome Caused by a Mutation in Type I Collagen
Nuytinck, Lieve, Freund, Margarida, Lagae, Lieven, Pierard, Gerald E., Hermanns-Le, Trinh, De Paepe, Anne
Classical Ehlers-Danlos syndrome (EDS) is characterized by skin hyperelasticity, joint hypermobility, increased tendency to bruise, and abnormal scarring. Mutations in type V collagen, a regulator of...