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M van Gijn

Utrecht University

14

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244

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The expanding spectrum of clinical phenotypes associated with PSTPIP1 mutations: from PAPA to PAMI syndrome and beyond

2018 British Journal of Dermatology
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Erythematous nodes, urticarial rash and arthralgias in a large pedigree with NLRC4‐related autoinflammatory disease, expansion of the phenotype

2017 British Journal of Dermatology
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Diagnostic value of urinary mevalonic acid excretion in patietns with a clinical suspicion of mevalonate kinase deficiency (MKD)

2015 Pediatric Rheumatology
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Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations.

2015 Pediatric Rheumatology
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A novel mutation in NLRC4 in a large pedigree with an anakinra responsive autoinflammatory disease

2015 Pediatric Rheumatology
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Neonatale erythrodermie en collodionbaby

2015
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PW03-007 - NLRP3 genetic variants in Schnitzler’s syndrome

2013 Pediatric Rheumatology
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OR7-002 – Pyrin 577 mutations in dominant autoinflammation

2013 Pediatric Rheumatology
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Guidelines for the genetic diagnosis of hereditary recurrent fevers

2012 Annals of the Rheumatic Diseases
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True autosomal dominant inheritance of familial mediterranean fever caused by a mutation in exon 8 of the MEFV gene

2012 Allergy
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