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Cytogenetic and Array-CGH Characterization of a 6q27 Deletion in a Patient With Developmental Delay and Features of Ehlers-Danlos Syndrome
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Short stature, severe aortic root dilation, skin hyperextensibility, extreme joint laxity and craniofacial dysmorphic features: a probable new syndrome
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Added value of infrared, red-free and autofluorescence fundus imaging in Pseudoxanthoma elasticum
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Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients
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- Journal Article
- A1
- open access
Analysing 454 amplicon resequencing experiments using the modular and database oriented Variant Identification Pipeline
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- Journal Article
- A1
- open access
Low serum vitamin K in PXE results in defective carboxylation of mineralization inhibitors similar to the GGCX mutations in the PXE-like syndrome
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Mutations in Fibrillin-1 Cause Congenital Scleroderma: Stiff Skin Syndrome
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- Journal Article
- A1
- open access
Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region
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Next generation sequencing: (r)evolutie in DNA sequenering en haar rol in de moderne geneeskunde
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Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency