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Familial chylomicronemia syndrome : a novel mutation in the lipoprotein lipase gene
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- Journal Article
- A1
- open access
Nutrient status and intakes of adults with phenylketonuria
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From gastrointestinal enigma to genetic clarity : unraveling the MYH11 SM2 connection
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EpiCare@Home : remote wearable seizure monitoring for people with epilepsy can improve delivery of care
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ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures
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- Journal Article
- A1
- open access
Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling
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- Conference Paper
- C3
- open access
Expanded phenotyping by microscopic imaging
(2022) JOURNAL OF INHERITED METABOLIC DISEASE. In Journal of Inherited Metabolic Disease 45(Supplement 1). p.69-69 -
- Journal Article
- A1
- open access
Shortcutting the diagnostic odyssey : the multidisciplinary program for undiagnosed rare diseases in adults (UD-PrOZA)
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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