8 results on '"Giurgea, Irina"'
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2. NLRP3-associated autoinflammatory diseases: Phenotypic and molecular characteristics of germline versus somatic mutations
3. Somatic Mosaic NLRP3 Mutations and Inflammasome Activation in Late-Onset Chronic Urticaria
4. Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing
5. Neonatal hypoglycaemia: aetiologies
6. Lésions urticariennes chroniques associées à une hypercytokinémie massive : une nouvelle maladie mendélienne
7. Typical Familial Mediterranean Fever associated with the heterozygous missense sequence p.T577N variant of the MEFV gene: Report on two Northern European Caucasians relatives in France
8. A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practice
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