prof. dr. ir. Sarah Vergult
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Noncoding structural variants disrupt the regulatory architecture of Rett genes
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- Journal Article
- A1
- open access
A neuronal enhancer network upstream of MEF2C is compromised in patients with Rett-like characteristics
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De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome
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CRISPR/Cas9-mediated genome editing in naïve human embryonic stem cells
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CRISPR/Cas9-mediated genome editing in naïve human embryonic stem cells
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A neuronal enhancer network upstream of MEF2C is compromised in patients with Rett-like characteristics
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De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation
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The clinical heterogeneity of the NARS2 c.822G>C mutation clearly illustrated in two siblings : epilepsy and myopathy
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Complex III deficiency due to a homozygous mutation in the nuclear encoded subunit UQCRQ
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- Journal Article
- A1
- open access
Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency