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- Conference Paper
- open access
Expanded phenotyping by microscopic imaging
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- Journal Article
- A1
- open access
Mutations in RNU7-1 weaken secondary RNA structure, induce MCP-1 and CXCL10 in CSF, and result in Aicardi-Goutières syndrome with severe end-organ involvement
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Novel mutations in RNU7-1 weaken secondary RNA structure, induce MCP-1 and CXCL10 in CSF and result in Aicardi-Goutières syndrome with severe end-organ involvement
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- Conference Paper
- C3
- open access
Towards an algorithm-based tailored treatment of acute neonatal hyperammonaemia : an example using CarpeDiem and Fresenius 4008 machine
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- Journal Article
- A1
- open access
Towards an algorithm-based tailored treatment of acute neonatal hyperammonemia
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- Conference Paper
- C3
- open access
A kinetic-based protocol for acute hyperammonaemia in neonates using CarpeDiem and Fresenius 4008 machine
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- Journal Article
- A1
- open access
A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation
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Recurrent arterial ischemic stroke with good response to mycophenolate mofetil
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A child presenting with severe hypertension and circulatory failure, a diagnostic conundrum : questions and answers
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RC3H1 mutation with increased ICOS expression causes an autoinflammatory syndrome