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- Journal Article
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De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity
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SAMHD1 compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of Aicardi-Goutières syndrome
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- Journal Article
- A1
- open access
Flemish network on rare connective tissue diseases (CTD) : patient pathways in systemic sclerosis : first steps taken
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Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome) : genotype and phenotype of 22 patients with ZNF148 mutations
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Long-read sequencing and optical genome mapping enable full characterization of previously unresolved structural variation
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- Conference Paper
- C3
- open access
Long-read sequencing and optical genome mapping enable full characterization of previously unresolved structural variation
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Long-read sequencing resolves (complex) cryptic structural variation in patients with syndromic intellectual disability
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Long-read sequencing resolves (complex) cryptic structural variation in patients with syndromic intellectual disability
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Long-read sequencing enables full characterization of previously unresolved structural variation
-
- Conference Paper
- C3
- open access
Long-read sequencing resolves (complex) cryptic structural variation in patients with syndromic intellectual disability