9 results on '"Ruiz-Ortiz E"'
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2. Development of a workflow to analyze autoinflammatory-associated genes using AccessArray™ system and next generation sequencing
3. NOD2 mosaicism in Blau syndrome
4. A family carrying a homozygous LACC1 truncated mutation expands the clinical phenotype of this disease beyond systemic-onset juvenile idiopathic arthritis
5. Somatic NLRP3 mosaicism in Muckle-Wells syndrome
6. Clinical and genetic features of Spanish patients with Mevalonate kinase deficiency
7. PW02-024-B - First report of AA amyloidosis in Blau syndrome
8. P02-021 - Atypical CAPS consequence of novel NLPR3 mutations
9. P02-002 - IL36RN mutations in patients with DITRA
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