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Uremic encephalopathy
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- Journal Article
- A1
- open access
Modifying PCDH19 levels affects cortical interneuron migration
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Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy
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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
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Cerebral vasospasm in acute porphyria
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- Journal Article
- A1
- open access
New insights into the phenotype of FARS2 deficiency
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Megaconial muscular dystrophy caused by mitochondrial membrane homeostasis defect, new insights from skeletal and heart muscle analyses
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A canine orthologue of the human GFAP c.716G>A (p.Arg239His) variant causes Alexander disease in a Labrador retriever
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Epigenetic changes in lymphocytes of solvent-exposed individuals
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Acuut leverfalen : een zeldzame maar niet te missen diagnose